Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

Human Genetics

Volumn 112, Issue 2, 2003, Pages 186-189

  Campos Xavier, Ana Belinda ^a   Saraiva, Jorge M ^b   Ribeiro, Letícia M ^b   Munnich, Arnold ^a   Cormier Daire, Valérie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CLCN7 PROTEIN, HUMAN; MICROSATELLITE DNA; PRIMER DNA;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITY; BOY; CASE REPORT; CHILD; CHLORIDE CHANNEL 7; DOMINANT INHERITANCE; FAMILY STUDY; FEMALE; FRACTURE; GENE MUTATION; GENE SEQUENCE; GIRL; HOMOZYGOSITY; HUMAN; MALE; MALIGNANT TRANSFORMATION; POPULATION GENETICS; PORTUGAL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; ALLELE; AMINO ACID SEQUENCE; CHEMISTRY; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RADIOGRAPHY; RECESSIVE GENE;

ALLELES; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOPETROSIS; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0037315475     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0861-9     Document Type: Article

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