ISSN:
1435-232X
Keywords:
Key words Hot spot
;
Mutation
;
Neurofibromatosis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050016
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