A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis. [electronic resource]
Producer: 20100812Description: 720-4 p. digitalISSN:- 1708-8267
- Amino Acid Sequence
- Animals
- Cathepsin K -- chemistry
- Cattle
- Chromosome Disorders
- Consanguinity
- DNA Mutational Analysis
- Dogs
- Family Health
- Female
- Genes, Recessive -- genetics
- Genetic Linkage
- Genotype
- Humans
- Male
- Mice
- Microsatellite Repeats -- genetics
- Molecular Sequence Data
- Mutation, Missense
- Osteopetrosis -- blood
- Pakistan
- Pan troglodytes
- Rats
- Sequence Alignment
- Zebrafish
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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