A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent

Glaucoma is the second leading cause of blindness, affecting ~65 million people worldwide. We identified and ascertained a large cohort of inbred families with multiple individuals manifesting cardinal symptoms of primary congenital glaucoma (PCG) to investigate the etiology of the disease at a mole...

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Detaylı Bibliyografya
Yayımlandı:Hum Genome Var
Asıl Yazarlar: Rauf, Bushra, Irum, Bushra, Kabir, Firoz, Firasat, Sabika, Naeem, Muhammad Asif, Khan, Shaheen N, Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Riazuddin, S Amer
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Data Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4972894/
https://ncbi.nlm.nih.gov/pubmed/27508083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.21
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