Title: Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients
Abstract: Two novel frameshift adrenoleukodystrophy mutations in two families were identified: a complex dinucleotide deletion/tetranucleotide insertion at 1116 TC→GAGA (codon 244 [serine]) and an AG deletion at nucleotide 1462 (codon 359 [glutamic acid]). Both mutations are predicted to cause premature termination of protein synthesis. The patients were affected by childhood cerebral adrenoleukodystrophy and by adrenomyeloneuropathy with mild Addison disease, respectively.
Publication Year: 1999
Publication Date: 1999-05-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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