'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...
Guardado en:
| Publicado en: | J Med Genet |
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| Autores principales: | , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
1981
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| 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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