Mutation of ATF6 causes autosomal recessive achromatopsia

Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia, nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM. We performed homozygosity mapping and linkage ana...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genet
Prif Awduron: Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Saqib, Muhammad Arif Nadeem, Zulfiqar, Fareeha, Lee, Kwanghyuk, Ashraf, Naeem Mahmood, Ullah, Ehsan, Wang, Xin, Sajid, Sundus, Khan, Falak Sher, Amin-ud-Din, Muhammad, Smith, Joshua D., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Hameed, Abdul, Riazuddin, Saima, Ahmed, Zubair M., Ahmad, Wasim, Leal, Suzanne M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2015
Pynciau:
Original Investigation
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4529463/
https://ncbi.nlm.nih.gov/pubmed/26063662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1571-4
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