TY  - GEN
AU  - Shahzadi,Amber
AU  - Riazuddin,S Amer
AU  - Ali,Shahbaz
AU  - Li,David
AU  - Khan,Shaheen N
AU  - Husnain,Tayyab
AU  - Akram,Javed
AU  - Sieving,Paul A
AU  - Hejtmancik,J Fielding
AU  - Riazuddin,Sheikh
TI  - Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
SN  - 1468-2079
PY  - 2010///0819
KW  - Adult
KW  - Base Sequence
KW  - Chromosomes, Human, Pair 2
KW  - genetics
KW  - Codon, Nonsense
KW  - Electroretinography
KW  - Female
KW  - Genetic Linkage
KW  - Genotype
KW  - Humans
KW  - Lod Score
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Proto-Oncogene Proteins
KW  - Receptor Protein-Tyrosine Kinases
KW  - Retinitis Pigmentosa
KW  - Visual Acuity
KW  - c-Mer Tyrosine Kinase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/bjo.2009.171892
ER  -