Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (7.5%) showed loss of heterozygosity (LOH), indicat...

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Detalhes bibliográficos
Main Authors: Rasmussen, S A, Colman, S D, Ho, V T, Abernathy, C R, Arn, P H, Weiss, L, Schwartz, C, Saul, R A, Wallace, M R
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051340/
https://ncbi.nlm.nih.gov/pubmed/9643287
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