Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Nature Genetics

Volumn 25, Issue 3, 2000, Pages 343-346

  Frattini, Annalisa ^a   Orchard, Paul J ^b   Sobacchi, Cristina ^a   Giliani, Silvia ^e   Abinun, Mario ^c   Mattsson, Jan P ^d   Keeling, David J ^d   Andersson, Ann Katrin ^d   Wallbrandt, Pia ^d   Zecca, Luigi ^a   Notarangelo, Luigi D ^e   Vezzoni, Paolo ^a   Villa, Anna ^a  

^a CNR   (Italy)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^c NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

^d ASTRAZENECA R AND D   (Sweden)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SUBUNIT; PROTON PUMP;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL VACUOLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; OSTEOCLAST; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALTERNATIVE SPLICING; BASE SEQUENCE; BONE MARROW; DNA, COMPLEMENTARY; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; OSTEOPETROSIS; PROTON PUMPS; PROTON-TRANSLOCATING ATPASES; VACUOLAR PROTON-TRANSLOCATING ATPASES;

ANIMALIA;

EID: 0033946477     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/77131     Document Type: Article

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