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A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
PURPOSE: To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients. METHODS: Genomic DNA and clinical data were collected from the family. Genome-wide linkage analysis was performed to...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Molecular Vision
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3244478/ https://ncbi.nlm.nih.gov/pubmed/22194653 |
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