Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

Elizondo, L I; Cho, K S; Zhang, W; Yan, J; Huang, C; Huang, Y; Choi, K; Sloan, E A; Deguchi, K; Lou, S; Baradaran-Heravi, A; Takashima, H; Lücke, T; Quiocho, F A; Boerkoel, C F

Elizondo, L I; Cho, K S; Zhang, W; Yan, J; Huang, C; Huang, Y; Choi, K; Sloan, E A; Deguchi, K; Lou, S; Baradaran-Heravi, A; Takashima, H; Lücke, T; Quiocho, F A; Boerkoel, C F.

J Med Genet ; 46(1): 49-59, 2009 Jan.

Article in En | MEDLINE | ID: mdl-18805831

Subject(s)

DNA Helicases/genetics; Immunologic Deficiency Syndromes/genetics; Osteochondrodysplasias/genetics; Adenosine Triphosphatases/metabolism; Amino Acid Sequence; Animals; Animals, Genetically Modified; Cells, Cultured; DNA Helicases/analysis; DNA Helicases/metabolism; Drosophila melanogaster/genetics; Drosophila melanogaster/metabolism; Gene Deletion; Genes, Recessive; Humans; Models, Genetic; Molecular Sequence Data; Mutation; Phenotype; RNA, Messenger/metabolism; Sequence Alignment

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / DNA Helicases / Immunologic Deficiency Syndromes Limits: Animals / Humans Language: En Journal: J Med Genet Year: 2009 Type: Article

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