Title: [Analysis of NF1 gene variant in a sporadic case with neurofibromatosis type 1].
Abstract: To explore the genetic basis for a sporadic case with neurofibromatosis type 1 (NF1).Peripheral blood samples were collected from the patient, his unaffected parents and 100 healthy controls. The NF1 gene was detected by PCR and direct sequencing.The patient was found to carry a novel nonsense variant c.4339C>T (p.Q1447X) in exon 33 of the NF1 gene. The same variant was not found in his unaffected parents and the 100 healthy controls.The c.4339C>T (p.Q1447X) variant probably underlies the pathogenesis of NF1 in this patient.
Publication Year: 2020
Publication Date: 2020-08-10
Language: en
Type: article
Indexed In: ['pubmed']
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Cited By Count: 1
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