Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Nature Genetics

Volumn 30, Issue 2, 2002, Pages 215-220

  Boerkoel, Cornelius F ^a   Takashima, Hiroshi ^a   John, Joy ^a   Yan, Jiong ^a   Stankiewicz, Pawel ^a   Rosenbarker, Lisa ^a   André, Jean Luc ^b   Bogdanovic, Radovan ^c   Burguet, Antoine ^d   Cockfield, Sandra ^e   Cordeiro, Isabel ^f   Fründ, Stefan ^g   Illies, Friederike ^h   Joseph, Mark ⁱ   Kaitila, Ilkka ^j   Lama, Giuliana ^k   Loirat, Chantal ^l   McLeod, D Ross ^m   Milford, David V ⁿ   Petty, Elizabeth M ^o   Rodrigo, Francisco ^p   Saraiva, Jorge M ^q   Schmidt, Beate ^r   Smith, Graham C ^s   Spranger, Jürgen ^t   Stein, Anja ^h   Thiele, Hannelore ^u   Tizard, Jane ^v   Weksberg, Rosanna ^w   Lupski, James R ^a   Stockton, David W ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b HÔPITAL D ENFANTS   (France)

^c Institute of Mother and Child Healthcare of Serbia   (Serbia)

^d UNIVERSITY HOSPITAL OF BESANÇON   (France)

^e UNIVERSITY OF ALBERTA   (Canada)

^f HOSPITAL DE SANTA MARIA   (Portugal)

^g KfH Kinderdialyse   (Germany)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

ⁱ PHOENIX CHILDREN'S HOSPITAL   (United States)

^j HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^l HÔPITAL ROBERT DEBRÉ   (France)

^m ALBERTA CHILDREN'S HOSPITAL   (Canada)

ⁿ BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^o UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^p HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^q CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^r UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^s UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^t UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^u MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^v BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^w HOSPITAL FOR SICK CHILDREN   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; COMPLEMENTARY DNA; MUTANT PROTEIN; SMARCAL1 PROTEIN; SWI/SNF2 RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A LIKE 1 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CHILD; CHROMATIN; CLINICAL ARTICLE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC LINKAGE; GENOME; HUMAN; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPONDYLOEPIPHYSEAL DYSPLASIA;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CONSERVED SEQUENCE; DNA; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; KIDNEY FAILURE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY; T-LYMPHOCYTES;

EID: 18544381908     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng821     Document Type: Article

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