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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Vydáno v:Hum Genome Var
Hlavní autoři: Rauf, Bushra, Irum, Bushra, Kabir, Firoz, Firasat, Sabika, Naeem, Muhammad Asif, Khan, Shaheen N, Husnain, Tayyab, Riazuddin, Sheikh, Akram, Javed, Riazuddin, S Amer
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
Témata:
Data Report
On-line přístup: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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