Article
Mutation of ATF6 causes autosomal recessive achromatopsia.
Human genetics - 1 Sept 2015
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
Abstract excerpt
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 analysis in a consanguineous Pakistani ACHM family and mapped the locus to a 15.12-Mb region on chromosome 1q23.1-q24.3...
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