Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Pedigree analysis of British families with Leber hereditary optic neuropathy (LHON) closely fits a model in which a pathogenic mtDNA mutation interacts with an X-linked visual loss susceptibility locus (VLSL). This model predicts that 60% of affected females will show marked skewing of X inactivatio...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chalmers, R. M., Davis, M. B., Sweeney, M. G., Wood, N. W., Harding, A. E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1996
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915120/
https://ncbi.nlm.nih.gov/pubmed/8659512
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