title: Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
authors.affiliation: Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa 29050, Pakistan. christian.windpassinger@medunigraz.at.
authors.forename: Muzammil Ahmad
authors.initials: MA
authors.lastname: Khan
authors.forename: Verena
authors.initials: V
authors.lastname: Rupp
authors.forename: Muhammad Ayaz
authors.initials: MA
authors.lastname: Khan
authors.forename: Muhammad Pervaiz
authors.initials: MP
authors.lastname: Khan
authors.forename: Muhammad
authors.initials: M
authors.lastname: Ansar
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010154:Pakistan; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; D011956:Receptors, Cell Surface; C110715:guanylate cyclase 1; D006162:Guanylate Cyclase