TY  - GEN
AU  - Kabir,Firoz
AU  - Naz,Shagufta
AU  - Riazuddin,S Amer
AU  - Naeem,Muhammad Asif
AU  - Khan,Shaheen N
AU  - Husnain,Tayyab
AU  - Akram,Javed
AU  - Sieving,Paul A
AU  - Hejtmancik,J Fielding
AU  - Riazuddin,Sheikh
TI  - Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
SN  - 1090-0535
PY  - 2013///0924
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Chromosomes, Human, Pair 1
KW  - genetics
KW  - Consanguinity
KW  - Conserved Sequence
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Family
KW  - Female
KW  - Fundus Oculi
KW  - Genetic Predisposition to Disease
KW  - Haplotypes
KW  - Humans
KW  - Lod Score
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pakistan
KW  - Pedigree
KW  - Retinal Dystrophies
KW  - cis-trans-Isomerases
KW  - chemistry
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
ER  -