A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration

Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined w...

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Bibliografiset tiedot
Julkaisussa:Hum Mol Genet
Päätekijät: Biswas, Pooja, Chavali, Venkata Ramana Murthy, Agnello, Giulia, Stone, Everett, Chakarova, Christina, Duncan, Jacque L., Kannabiran, Chitra, Homsher, Melissa, Bhattacharya, Shomi S., Naeem, Muhammad Asif, Kimchi, Adva, Sharon, Dror, Iwata, Takeshi, Riazuddin, Shaikh, Reddy, G. Bhanuprakash, Hejtmancik, J. Fielding, Georgiou, George, Riazuddin, S. Amer, Ayyagari, Radha
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2016
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Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6086560/
https://ncbi.nlm.nih.gov/pubmed/27106100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw113
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