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Genetic counselling in facioscapulohumeral muscular dystrophy.

Clinical data are presented from a survey of 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) in which over 500 family members were examined, including 168 affected subjects. New mutation could account for six isolated cases. Results suggest that 33% of heterozygot...

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Detalles Bibliográficos
Publicado en:J Med Genet
Autores principales: Lunt, P W, Harper, P S
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 1991
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017051/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1941962/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.655
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