A phenocopy of CAII deficiency: A novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis

Journal of Medical Genetics

Volumn 40, Issue 2, 2003, Pages 115-121

  Borthwick, K J ^a   Kandemir, N ^b   Topaloglu, R ^b   Kornak, U ^c   Bakkaloglu, A ^b   Yordam, N ^b   Ozen, S ^b   Mocan, H ^d   Shah, G N ^e   Sly, W S ^e   Karet, F E ^a,f  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY OF HAMBURG   (Germany)

^d FLORENCE NIGHTINGALE HOSPITAL   (Turkey)

^e SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CALCIUM; CARBONATE DEHYDRATASE; CITRATE SODIUM; CITRIC ACID; COLECALCIFEROL; ISOPROTEIN; POTASSIUM; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITY; BRAIN CALCIFICATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONSANGUINITY; DISEASE COURSE; ENZYME DEFICIENCY; ENZYME SUBUNIT; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GROWTH DISORDER; HOMOZYGOSITY; HUMAN; INFANT; KIDNEY TUBULE ACIDOSIS; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; OSTEOCLAST; PRIORITY JOURNAL; TISSUE SPECIFICITY; TREATMENT OUTCOME;

EID: 0037326706     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.2.115     Document Type: Article

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