Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.
Hum Genet
; 96(3): 361-3, 1995 Sep.
Article
en En
| MEDLINE
| ID: mdl-7649559
ABSTRACT
We present two further cases of mutation R1947X in the neurofibromatosis type 1 gene. To date, a total of nine cases of mutation R1947X have been reported giving a frequency of about 2% and confirming the recurrence of this mutation. R1947X occurs within a CpG dinucleotide and supports the hypothesis that the mutation rate for this dinucleotide is higher than that of other dinucleotides. As routine analysis for R1947X is advisable, we have developed an allele-specific oligonucleotide hybridization assay for the efficient screening of a large number of samples.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Genes de Neurofibromatosis 1
/
Neurofibromatosis 1
/
Mutación Puntual
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Genet
Año:
1995
Tipo del documento:
Article
País de afiliación:
España