A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Naeem, Muhammad ^a   Sheikh, Sabeen ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CATHEPSIN K; MICROSATELLITE DNA; VALINE; CATHEPSIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 1Q; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; DYSOSTOSIS; FEMALE; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PYKNODYSOSTOSIS; SCHOOL CHILD; BONE DYSPLASIA; CONSANGUINITY; EXON; GENETICS; PEDIGREE; RECESSIVE GENE;

BONE DISEASES, DEVELOPMENTAL; CATHEPSINS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 69849094415     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-76     Document Type: Article

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