Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

Human Molecular Genetics

Volumn 9, Issue 13, 2000, Pages 2059-2063

  Kornak, Uwe ^a   Schulz, Ansgar ^b   Friedrich, Wilhelm ^b   Uhlhaas, Siegfried ^c   Kremens, Bernhard ^d   Voit, Thomas ^d   Hasan, Carola ^c   Bode, Udo ^c   Jentsch, Thomas J ^a   Kubisch, Christian ^c  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HOSPITAL ULM   (Germany)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PROTON PUMP; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ACIDIFICATION; AMINO TERMINAL SEQUENCE; ARTICLE; BONE DEFECT; BONE MATRIX; CELL FUNCTION; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; OSTEOCLAST; OSTEOPOROSIS; PRIORITY JOURNAL; RECESSIVE GENE;

EID: 0034641590     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.13.2059     Document Type: Article

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