| Literature DB >> 10721668 |
K C Park1, H O Choi, K H Park, K H Kim, H C Eun.
Abstract
We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.Entities:
Mesh：
Substances：
Year: 2000 PMID： 10721668 DOI： 10.1007/s100380050016
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172