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Non-syndromic early-onset cone-rod dystrophy and limb-girdle muscular dystrophy in a consanguineous Israeli family are caused by two independent yet linked mutations in ALMS1 and DYSF
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we characterized a family with early onset cone-rod dystrophy (CRD) and muscular dystrophy. Homozygosity mapping followed by whole exome sequen...
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| 出版年: | Hum Mutat |
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| 主要な著者: | , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4537390/ https://ncbi.nlm.nih.gov/pubmed/26077327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22822 |
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