Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7 chloride channel gene

Human Molecular Genetics

Volumn 10, Issue 25, 2001, Pages 2861-2867

  Cleiren, Erna ^a   Bénichou, Olivier ^b   Van Hul, Els ^a   Gram, Jeppe ^c   Bollerslev, Jens ^d   Singer, Frederick R ^e   Beaverson, Katherine ^f   Aledo, Alexander ^f   Whyte, Michael P ^g   Yoneyama, Tatsuo ^h   De Vernejoul, Marie Christine ^b   Van Hul, Wim ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b HÔPITAL LARIBOISIÈRE   (France)

^c ESBJERG HOSPITAL   (Denmark)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e JOHN WAYNE CANCER INSTITUTE   (United States)

^f WEILL CORNELL MEDICAL COLLEGE   (United States)

^g SHRINERS HOSPITAL FOR CHILDREN   (United States)

^h DEPARTMENT OF VETERANS AFFAIRS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 16P; CONTROLLED STUDY; FAMILY; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ALLELES; AMINO ACID SEQUENCE; CHLORIDE CHANNELS; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOPETROSIS; PEDIGREE; PEPTIDE FRAGMENTS; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 18244389008     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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