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Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11
OBJECTIVE: To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation. METHODS: Members of 16 families w...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2007
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2597914/ https://ncbi.nlm.nih.gov/pubmed/16825429 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044644 |
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