Identification of a Novel Mutation in the Coding Region of the Grey-Lethal Gene OSTM1 in Human Malignant Infantile Osteopetrosis

Human Mutation

Volumn 23, Issue 5, 2004, Pages 471-476

  Ramírez, Alfredo ^a   Faupel, Julia ^a   Goebel, Ingrid ^a   Stiller, Anne ^a   Beyer, Susanne ^a   Stöckle, Christina ^a   Hasan, Carola ^a   Bode, Udo ^a   Kornak, Uwe ^b   Kubisch, Christian ^a  

^a UNIVERSITY OF BONN   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

Author keywords

ARO; GL; Grey lethal; Osteoclast; Osteopetrosis; OSTM1

Indexed keywords

CHLORIDE CHANNEL; GENOMIC DNA; PROTEIN SUBUNIT; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ALBERS SCHOENBERG DISEASE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL FUNCTION; CHROMOSOME 6Q; CLINICAL FEATURE; DISEASE SEVERITY; EXON; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; GENOTYPE; HEPATOSPLENOMEGALY; HOMOZYGOTE; HUMAN; INFANT; LINKAGE ANALYSIS; MALE; MARKER GENE; MOUSE; MOUSE STRAIN; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OSTEOCLAST; OSTEOLYSIS; OSTEOSCLEROSIS; OSTM1 GENE; PANCYTOPENIA; PATHOLOGIC FRACTURE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 6; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; OSTEOPETROSIS; SEQUENCE DELETION; SYNTENY; UBIQUITIN-PROTEIN LIGASES;

MURINAE;

EID: 2342632645     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20028     Document Type: Article

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