Publication Information

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[398], 'G': [401], 'T': [403], 'transversion': [404], 'last': [407], 'nucleotide': [408, 1044, 1255], 'exon': [410], '4,': [411], 'caused': [412], 'both': [413], 'missense': [415, 1201], 'aberrantly': [419], 'spliced': [420], 'RNA': [421], 'transcript.': [422], 'Prokaryotic': [423], 'expression': [424, 1047, 1160, 1227, 1257], 'URO-synthase': [428], 'those': [431], 'significant': [433], 'residual': [434, 1205], 'activity,': [435], 'thereby': [436], 'permitting': [437], 'genotype/phenotype': [438], 'predictions': [439], 'clinically': [442], 'heterogeneous': [443], 'disease.': [444], '©': [445], 'Wiley-Liss,': [447], 'Inc.': [448], 'References': [449], 'KH,': [451], 'Warner': [452, 1111, 1146, 1176, 1217], 'CA,': [453, 1112, 1147, 1177, 1218], 'Yoo': [454, 1113, 1148], 'HW,': [455, 1114, 1149], 'Goodfellow': [456], 'PJ,': [457], 'Tsai': [458, 981, 1008, 1031, 1115, 1182], 'SF,': [459, 982, 1009, 1032, 1116], 'RJ': [461, 986, 1013, 1036, 1120, 1153, 1185, 1220, 1248], '(1991)': [462], 'Regional': [463], 'assignment': [464, 628, 1266], '(UROS)': [471], 'chromosome': [474, 631, 1269], '10q25-q26.3.': [475], 'Hum': [476, 693, 716, 1142], 'Genet': [477, 694, 717, 903, 1143], '87:': [478], '18–': [479], '22.': [480], 'Barker': [481], 'DF,': [482, 984, 1011, 1034], 'Shafer': [483], 'M,': [484, 607, 861], 'White': [485], 'R': [486, 768], '(1984)': [487], 'Restriction': [488], 'sites': [489], 'containing': [490], 'CpG': [491], 'show': [492], 'higher': [494], 'frequency': [495], 'polymorphism': [497], 'DNA.': [500], 'Cell': [501], '36:': [502], '131–': [503], '138.': [504], 'Battersby': [505, 555], 'AR,': [506, 556], 'Fookes': [507, 557], 'CJR,': [508, 558], 'Gustafson-Potter': [509, 559], 'KE,': [510, 560], 'McDonald': [511, 561], 'E,': [512, 562], 'Matcham': [513, 563], 'GWJ': [514, 564], '(1982a)': [515], 'Biosynthesis': [516, 566, 759], 'porphyrins': [518, 568], 'related': [520, 570], 'macrocycles.': [521, 571], 'Part': [522, 572], '18.': [523], 'Proof': [524, 583], 'spectroscopy': [526], 'synthesis': [528], 'unrearranged': [530, 585], 'hydroxymethylbilane': [531], 'product': [534], 'deaminase': [536], 'substrate': [538, 591], 'cosynthase': [540, 967], 'biosynthesis': [543], 'III.': [546], 'J': [547, 598, 820, 874, 886, 1025, 1103, 1141, 1170, 1237], 'Chem': [548, 599, 1027, 1105], 'Soc': [549, 600], 'Perkin': [550, 601], 'Trans': [551, 602], '1:': [552, 603], '2427–': [553], '2444.': [554], '(1982b)': [565], '17.': [573], 'Chemical': [574], 'enzymatic': [576, 590, 812], 'transformation': [577], 'isomeric': [579], 'aminomethylbilanes': [580], 'into': [581], 'uroporphyrinogens:': [582], 'bilane': [586], 'preferred': [589], 'detection': [593], 'transient': [596], 'intermediate.': [597], '2413–': [604], '2426.': [605], 'Bensidhoum': [606], 'Ged': [608], 'CM,': [609], 'Poirier': [610], 'C,': [611, 949, 1079], 'Guénet': [612], 'J-L,': [613], 'de': [615, 721, 795, 1068], 'Verneuil': [616, 677, 722, 796, 829, 1069], 'H': [617], '(1994)': [618], 'The': [619, 643, 702, 916, 928], 'cDNA': [620, 1262], 'sequence': [621, 1045], 'mouse': [623, 630, 1260, 1268], '7.': [632, 1270], 'Mamm': [633], 'Genome': [634], '5,': [635], '728–': [636], '730.': [637], 'Bickers': [638], 'DR,': [639], 'Pathak': [640], 'MA': [641], '(1987)': [642, 952], 'Porphyrias.': [644, 917], 'In': [645, 767, 918], 'TB': [646], 'Fitzpatrick,': [647], 'AZ': [648], 'Eisen,': [649], 'K': [650], 'Wolff,': [651], 'IM': [652], 'Freedberg,': [653], 'KF': [654], 'Austen': [655], '(eds):': [656, 778, 927], 'Dermatology': [657], 'General': [659], 'Medicine.': [660], 'York:': [662, 787, 939], 'McGraw-Hill,': [663, 940], 'pp': [664, 790, 941], '1679–': [665], '1680.': [666], 'Boulechfar': [667, 831], 'S,': [668, 832, 910], 'Silva': [669, 1072], 'VD,': [670], 'Deybach': [671, 724, 793, 827], 'JC,': [672, 725, 794, 828, 1081], 'Nordmann': [673, 728, 800, 835, 913, 1082], 'Y,': [674, 801, 857, 865, 1083], 'Grandchamp': [675, 726, 833], 'B,': [676, 727, 834], 'HD': [678], '(1992)': [679], 'Heterogeneity': [680], 'porphyria.': [692, 748, 872, 972], '88:': [695], '320–': [696], '324.': [697], 'Cooper': [698], 'DN,': [699], 'Krawczak': [700], '(1990)': [701, 837, 1121], 'mutational': [703], 'spectrum': [704], 'single': [706], 'base-pair': [707], 'substitutions': [708], 'genetic': [711], 'disease:': [712], 'Patterns': [713], 'predictions.': [715], '85:': [718, 1058], '55–': [719], '74.': [720], 'H,': [723, 797, 1070], 'Y': [729, 836, 914], '(1989)': [730, 868], 'Coexistence': [731], 'point': [734], 'case': [744, 1092], 'Blood': [749, 852], '74:': [750], '105A': [751], '(abst).': [752], 'RJ,': [754], 'Anderson': [755], 'KE': [756], '(1995)': [757, 915], 'Heme': [758], 'its': [761, 1264], 'disorders:': [762], 'Porphyrias': [763], 'sideroblastic': [765], 'anemias.': [766], 'Hoffman,': [769], 'EJ': [770], 'Benz,': [771], 'SJ': [772], 'Shattil,': [773], 'B': [774, 805], 'Furie,': [775], 'HJ': [776], 'Cohen': [777], 'Hematology:': [779], 'Basic': [780], 'Principles': [781], 'Practice.': [783], '2nd': [784], 'Ed.': [785, 937], 'Churchill': [788], 'Livingstone,': [789], '523–': [791], '545.': [792], 'Phung': [798], 'N,': [799, 1065], 'Puissant': [802], 'A,': [803, 908, 1067], 'Boffety': [804], '(1981)': [806], "(Günther's": [810, 850], 'disease),': [811], 'studies': [813], 'on': [814], 'cases': [816], 'late': [818], 'onset.': [819], 'Lab': [821], 'Clin': [822, 1104, 1106, 1171, 1238], 'Med': [823], '97:': [824], '551–': [825], '558.': [826], 'HD,': [830], 'Point': [838], 'disease).': [851], '75:': [853], '1763–': [854], '1765.': [855], 'Horiguchi': [856], 'Horio': [858], 'T,': [859, 863], 'Yamamoto': [860], 'Tanaka': [862], 'Seki': [864], 'Imamura': [866], 'S': [867], 'Late': [869], 'onset': [870], 'Br': [873], 'Dermatol': [875, 1211], '121:': [876], '255–': [877], '262.': [878], 'Lakich': [879], 'D,': [880, 1077], 'Kazazian': [881], 'HH,': [882], 'Antonarakis': [883], 'SE,': [884], 'Gitschier': [885], '(1993)': [887, 1086], 'Inversions': [888], 'disrupting': [889], 'factor': [891], 'VIII': [892], 'are': [894], 'common': [896], 'cause': [897], 'severe': [899], 'haemophilia': [900], 'A.': [901], 'Nature': [902], '5:': [904], '236–': [905], '241.': [906], 'Kappas': [907], 'Sassa': [909], 'Galbraith': [911], 'RA,': [912], 'CS': [919], 'Scriver,': [920], 'AL': [921], 'Beaudet,': [922], 'WS': [923], 'Sly,': [924], 'D': [925], 'Valle': [926], 'Metabolic': [929], 'Bases': [932], 'Inherited': [934], 'Disease.': [935], '7th': [936], '2103–': [942], '2160.': [943], 'Moore': [944], 'MR,': [945], 'McColl': [946], 'KEL,': [947], 'Rimington': [948], 'Goldberg': [950], 'A': [951, 1085, 1190], 'Disorders': [953], 'Porphyrin': [955], 'Metabolism.': [956], 'Plenum.': [959], 'Romeo': [960], 'G,': [961], 'Levin': [962], 'EY': [963], '(1969)': [964], 'Uroporphyrinogen': [965, 1250], 'Proc': [973, 1053], 'Natl': [974, 1054], 'Acad': [975, 1055], 'Sci': [976, 1056], 'USA': [977, 1057], '63:': [978], '856–': [979], '863.': [980], 'Bishop': [983, 1010, 1033], '(1987a)': [987], 'Coupled-enzyme': [988], 'direct': [990], 'assays': [991], 'erythrocytes': [999], 'cultured': [1001], 'lymphoblasts.': [1002], 'Anal': [1003], 'Bioch': [1004], '166:': [1005], '120–': [1006], '133.': [1007], '(1987b)': [1014], 'Purification': [1015], 'properties': [1017], 'erythrocytes.': [1024], 'Biol': [1026], '262:': [1028], '1268–': [1029], '1273.': [1030], '(1988)': [1037], 'synthase:': [1041, 1252], 'cloning,': [1043, 1254], 'length': [1051], 'cDNA.': [1052], '7049–': [1059], '7053.': [1060], 'Verstraeten': [1061], 'L,': [1062], 'Van': [1063], 'Regemorter': [1064], 'Pardou': [1066], 'Da': [1071], 'V,': [1073], 'Rodesch': [1074], 'F,': [1075], 'Vermeylen': [1076], 'Donner': [1078], 'Noel': [1080], 'Hassoun': [1084], 'Biochemical': [1087], 'diagnosis': [1088], 'fatal': [1091], "Günter's": [1094], 'disease': [1095], 'newborn': [1098], 'hydrops': [1100], 'foetalis.': [1101], 'Eur': [1102], 'Biochem': [1107], '31:': [1108], '121–': [1109], '128.': [1110], 'Roberts': [1117, 1150], 'AG,': [1118, 1151], 'Characterization': [1125], 'genomic': [1128], 'structure': [1129], 'identification': [1131], 'Am': [1140], '47:': [1144], 'A83.': [1145], '(1992a)': [1154], 'Identification': [1158, 1225], 'exonic': [1162], 'Invest': [1172, 1239], '89:': [1173], '693–': [1174], '700.': [1175], 'Poh-Fitzpatrick': [1178], 'MB,': [1179], 'Zaider': [1180], 'EF,': [1181], 'S-F,': [1183], '(1992b)': [1186], 'mild': [1191], 'variant': [1192], 'low': [1194], 'uroporphyrin': [1195], 'I': [1196], 'levels': [1197], 'due': [1198], '(A66V)': [1203], 'encoding': [1204], 'activity.': [1209], 'Arch': [1210], '128:': [1212], '1243–': [1213], '1248.': [1214], 'W,': [1216, 1244], '(1995a)': [1221], 'ten': [1229], '95:': [1240], '905–': [1241], '912.': [1242], 'Kozak': [1245], 'AC,': [1246], '(1995b)': [1249], 'sequence,': [1256], 'full-length': [1261], 'regional': [1265], 'Genomics': [1271], '26:': [1272], '556–': [1273], '562.': [1274], 'Citing': [1275], 'Literature': [1276], 'Volume7,': [1277], 'Issue31996Pages': [1278], 'ReferencesRelatedInformation': [1280]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2007109729', 'counts_by_year': [{'year': 2022, 'cited_by_count': 1}, {'year': 2016, 'cited_by_count': 1}, {'year': 2014, 'cited_by_count': 1}, {'year': 2013, 'cited_by_count': 2}], 'updated_date': '2024-12-14T04:39:12.822921', 'created_date': '2016-06-24'}