Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

American Journal of Human Genetics

Volumn 83, Issue 1, 2008, Pages 64-76

  Guerrini, Matteo M ^a,b   Sobacchi, Cristina ^a,b   Cassani, Barbara ^b   Abinun, Mario ^c   Kilic, Sara S ^d   Pangrazio, Alessandra ^a,b   Moratto, Daniele ^e   Mazzolari, Evelina ^e   Clayton Smith, Jill ^f   Orchard, Paul ^g   Coxon, Fraser P ^h   Helfrich, Miep H ^h   Crockett, Julie C ^h   Mellis, David ^h   Vellodi, Ashok ⁱ   Tezcan, Ilhan ^j   Notarangelo, Luigi D ^e,k   Rogers, Michael J ^h   Vezzoni, Paolo ^a,b   Villa, Anna ^a,b,l   Frattini, Annalisa ^a,b   more..

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d ULUDAG UNIVERSITY   (Turkey)

^e Istituto di Medicina Molecolare Angelo Nocivelli   (Italy)

^f ST MARY S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^h UNIVERSITY OF ABERDEEN   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j HACETTEPE UNIVERSITY   (Turkey)

^k BOSTON CHILDREN S HOSPITAL   (United States)

^l SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COLONY STIMULATING FACTOR 1; OSTEOCLAST DIFFERENTIATION FACTOR; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B;

ALBERS SCHOENBERG DISEASE; ALLELE; ARTICLE; B LYMPHOCYTE; CONSANGUINITY; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IMMUNOGLOBULIN DEFICIENCY; IMMUNOLOGICAL PARAMETERS; IN VITRO STUDY; MONOCYTE; NUCLEOTIDE SEQUENCE; OSTEOCLAST; PRIORITY JOURNAL; SIBLING;

ACID PHOSPHATASE; ACTINS; AGAMMAGLOBULINEMIA; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANTIGENS, CD45; ARGENTINA; ARGININE; BIOPSY; CASE-CONTROL STUDIES; CELL LINE, TRANSFORMED; CELL PROLIFERATION; CELL TRANSFORMATION, VIRAL; CELLS, CULTURED; COHORT STUDIES; CONSANGUINITY; CYSTEINE; DENDRITES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HERPESVIRUS 4, HUMAN; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ILIUM; ISOENZYMES; LEUKOCYTES, MONONUCLEAR; LIPOPOLYSACCHARIDES; MACROPHAGE COLONY-STIMULATING FACTOR; MALE; MODELS, IMMUNOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCLASTS; OSTEOPETROSIS; OSTEOPROTEGERIN; PAKISTAN; PEDIGREE; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; RADIOGRAPHY, THORACIC; RANK LIGAND; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B; RECEPTORS, VITRONECTIN; SEQUENCE HOMOLOGY, AMINO ACID; TURKEY;

EID: 46349084493     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.06.015     Document Type: Article

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