Novel mutations in the a3 subunit of vacuolar H+-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis

Bone

Volumn 30, Issue 2, 2002, Pages 436-439

  Michigami, T ^a   Kageyama, T ^a   Satomura, K ^a   Shima, M ^b   Yamaoka, K ^c   Nakayama, M ^a   Ozono, K ^a  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c OSAKA GENERAL MEDICAL CENTER   (Japan)

Author keywords

a3 subunit; Mutation; Osteoclast; Osteopetrosis; TCIRG1; Vacuolar H+ ATPase

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CALCITRIOL; GAMMA INTERFERON; PROTON PUMP; VITAMIN D;

ALBERS SCHOENBERG DISEASE; ALLELE; ARTICLE; AUTOPSY; CASE REPORT; FEMALE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; OSTEOCLAST; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

CODON, TERMINATOR; EXONS; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMANS; INFANT, NEWBORN; INTRONS; JAPAN; OSTEOCLASTS; OSTEOPETROSIS; RNA SPLICE SITES; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 0036169599     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/S8756-3282(01)00684-6     Document Type: Article

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