A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis

Gene

Volumn 521, Issue 1, 2013, Pages 176-179

  Zheng, Hui ^a   Zhang, Zeng ^a   He, Jin Wei ^a   Fu, Wen Zhen ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

Author keywords

Cathepsin K; Missense mutation; Pyknodysostosis

Indexed keywords

ARGININE; CATHEPSIN K; GENOMIC DNA; GLUTAMINE;

ARTICLE; CHILD; CHINESE; CLINICAL FEATURE; CONSANGUINITY; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYCNODYSOSTOSIS; SCHOOL CHILD;

ASIAN CONTINENTAL ANCESTRY GROUP; CATHEPSIN K; CHILD; EXONS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PYCNODYSOSTOSIS;

EID: 84876744297     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.014     Document Type: Article

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