A 90 kb DNA deletion associated with neurofibromatosis type 1.

A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrel...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Upadhyaya, M, Cheryson, A, Broadhead, W, Fryer, A, Shaw, D J, Huson, S, Wallace, M R, Andersen, L B, Marchuk, D A, Viskochil, D
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017276/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2127432/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.12.738
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados