Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Journal of Bone and Mineral Research

Volumn 18, Issue 10, 2003, Pages 1740-1747

  Frattini, Annalisa ^a   Pangrazio, Alessandra ^a   Susani, Lucia ^a   Sobacchi, Cristina ^a   Mirolo, Massimiliano ^a   Abinun, Mario ^b   Andolina, Marino ^c   Flanagan, Adrienne ^d   Horwitz, Edwin M ^e   Mihci, Ercan ^f   Notarangelo, Luigi D ^g   Ramenghi, Ugo ^h   Teti, Anna ⁱ   Van Hove, Johan ^j   Vujic, Dragana ^k   Young, Terri ^l   Albertini, Alberto ^m   Orchard, Paul J ⁿ   Vezzoni, Paolo ^a   Villa, Anna ^a  

^a CNR   (Italy)

^b NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^e ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^f AKDENIZ UNIVERSITY   (Turkey)

^g UNIVERSITY OF BRESCIA   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^j UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^k Mother and Child Health Care Institute of Serbia   (Serbia)

^l CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^m Università di Brescia   (Serbia)

ⁿ UNIVERSITY OF MINNESOTA   (United States)

more..

Author keywords

Atp6a3; Bone marrow transplantation; ClCN7; Human osteopetrosis; Osteoclasts

Indexed keywords

CHLORIDE CHANNEL;

ALBERS SCHOENBERG DISEASE; ARTICLE; ATP6A3 GENE; AUTOSOMAL DISORDER; CLCN7 GENE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EARLY DIAGNOSIS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PROGNOSIS;

EID: 10744229008     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2003.18.10.1740     Document Type: Article

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