Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Shahzadi, Amber
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. [electronic resource] - The British journal of ophthalmology Aug 2010 - 1094-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-2079
10.1136/bjo.2009.171892 doi
Adult
Base Sequence
Chromosomes, Human, Pair 2--genetics
Codon, Nonsense
Electroretinography
Female
Genetic Linkage
Genotype
Humans
Lod Score
Male
Middle Aged
Pedigree
Proto-Oncogene Proteins--genetics
Receptor Protein-Tyrosine Kinases--genetics
Retinitis Pigmentosa--genetics
Visual Acuity
c-Mer Tyrosine Kinase
Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. [electronic resource] - The British journal of ophthalmology Aug 2010 - 1094-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-2079
10.1136/bjo.2009.171892 doi
Adult
Base Sequence
Chromosomes, Human, Pair 2--genetics
Codon, Nonsense
Electroretinography
Female
Genetic Linkage
Genotype
Humans
Lod Score
Male
Middle Aged
Pedigree
Proto-Oncogene Proteins--genetics
Receptor Protein-Tyrosine Kinases--genetics
Retinitis Pigmentosa--genetics
Visual Acuity
c-Mer Tyrosine Kinase