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Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort
PURPOSE: To identify the solute carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) mutation spectrum and to perform genotype-phenotype correlations in autosomal recessive Congenital Hereditary Endothelial Dystrophy (CHED2) in North Indian patients. METHODS: Twenty-five patients from...
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| Main Authors: | , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Molecular Vision
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3013067/ https://ncbi.nlm.nih.gov/pubmed/21203343 |
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