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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...
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| Main Authors: | , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1996
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1915120/ https://ncbi.nlm.nih.gov/pubmed/8659512 |
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