Novel compound heterozygous mutations in the cathepsin K gene in Japanese female siblings with pyknodysostosis

Molecular Syndromology

Volumn 2, Issue 6, 2011, Pages 254-258

  Matsushita, M ^a   Kitoh, H ^a   Kaneko, H ^a   Mishima, K ^a   Itoh, Y ^a   Hattori, T ^b   Ishiguro, N ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

Author keywords

Cathepsin K; Chondroitin 4 sulfate; Compound heterozygous mutations; Pyknodysostosis

Indexed keywords

CATHEPSIN K; CHONDROITIN 4 SULFATE;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYDROGEN BOND; JAPANESE; MISSENSE MUTATION; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYCNODYSOSTOSIS; SCHOOL CHILD;

EID: 84860330613     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000336581     Document Type: Article

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