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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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Original Investigation
Acesso em linha: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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