A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

Authors
Park, KC Choi, HO Park, KH Kim, KH Eun, HC
Citation
Kc. Park et al., A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient, J HUM GENET, 45(2), 2000, pp. 84-85
Citations number
10
Categorie Soggetti
Molecular Biology & Genetics
Journal title
JOURNAL OF HUMAN GENETICS
ISSN journal
14345161 → ACNP
Volume
45
Issue
2
Year of publication
2000
Pages
84 - 85
Database
ISI
SICI code
1434-5161(2000)45:2<84:ANMAAI>2.0.ZU;2-V
Abstract
We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transit ion changing an Arg-1947 codon to a stop codon. Because this mutation has b een described in multiple Caucasian and Japanese families, the codon CGA fo r Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in ne urofibromatosis type 1 in ail ethnic groups.