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'Pseudo-dominant' inheritance in Friedreich's ataxia.

A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individu...

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Detalles Bibliográficos
Publicado en:J Med Genet
Autores principales: Harding, A E, Zilkha, K J
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 1981
Materias:
Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1048733/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7277422/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.18.4.285
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