Ascertainment of myotonic dystrophy through cataract by selective screening.

Myotonic dystrophy (DM) almost always results from the expansion of an unstable (CTG)n repeat. The mutation can be detected directly. Affected patients with cataracts may have minimal additional signs of the disorder, but all are at risk of life threatening complications. We have studied the efficac...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Kidd, A, Turnpenny, P, Kelly, K, Clark, C, Church, W, Hutchinson, C, Dean, J C, Haites, N E
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050543/
https://ncbi.nlm.nih.gov/pubmed/7562963
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados