TY  - GEN
AU  - Khan,Bushra
AU  - Ahmed,Zahoor
AU  - Ahmad,Wasim
TI  - A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis
SN  - 1708-8267
PY  - 2010///0812
KW  - Amino Acid Sequence
KW  - Animals
KW  - Cathepsin K
KW  - chemistry
KW  - Cattle
KW  - Chromosome Disorders
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Dogs
KW  - Family Health
KW  - Female
KW  - Genes, Recessive
KW  - genetics
KW  - Genetic Linkage
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Mice
KW  - Microsatellite Repeats
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Osteopetrosis
KW  - blood
KW  - Pakistan
KW  - Pan troglodytes
KW  - Rats
KW  - Sequence Alignment
KW  - Zebrafish
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.231/JIM.0b013e3181da50bd
ER  -