Type II Benign Osteopetrosis (Albers-Schönberg Disease) Caused by a Novel Mutation in CLCN7 Presenting with Unusual Clinical Manifestations

Calcified Tissue International

Volumn 74, Issue 1, 2004, Pages 42-46

  Letizia, C ^a   Taranta, A ^b   Migliaccio, S ^a,c   Caliumi, C ^a   Diacinti, D ^a   Delfini, E ^a   D'Erasmo, E ^a   Iacobini, M ^a   Roggini, M ^a   Albagha, O M E ^d   Ralston, S H ^d   Teti, A ^c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c UNIVERSITY OF L'AQUILA   (Italy)

^d UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

Autosomal dominant osteopetrosis; Chloride channel; CLCN7; Osteoclast

Indexed keywords

ALKALINE PHOSPHATASE BONE ISOENZYME; AMINO TERMINAL TELOPEPTIDE; BIOLOGICAL MARKER; CHLORIDE CHANNEL; CREATINE KINASE; LACTATE DEHYDROGENASE; OSTEOCALCIN;

ACID BASE BALANCE; ADOLESCENT; ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE MASS; CASE REPORT; CELL MOTILITY; CLCN7 GENE; CLINICAL FEATURE; EXON; GENE; GENE MUTATION; GENETIC CODE; GENOTYPE; HUMAN; LAMELLIPODIUM; MALE; OSTEOCLAST; OSTEOLYSIS; OSTEOSCLEROSIS; PELVIC GIRDLE; PRIORITY JOURNAL; VERTEBRA;

ADOLESCENT; AMINO ACID SUBSTITUTION; ASPARTIC ACID; BIOLOGICAL MARKERS; CELLS, CULTURED; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; EXONS; GENES, DOMINANT; HETEROZYGOTE; HUMANS; MALE; MUTATION; OSTEOCLASTS; OSTEOPETROSIS; PEDIGREE; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0842305693     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-002-1087-5     Document Type: Article

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