Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa, N; Okada, S; Miki, M; Shirao, K; Kihara, H; Tsumura, M; Nakamura, K; Kawaguchi, H; Ohtsubo, M; Yasunaga, S; Matsubara, K; Sako, M; Hara, J; Shiohara, M; Kojima, S; Sato, T; Takihara, Y; Kobayashi, M

Ishikawa, N; Okada, S; Miki, M; Shirao, K; Kihara, H; Tsumura, M; Nakamura, K; Kawaguchi, H; Ohtsubo, M; Yasunaga, S; Matsubara, K; Sako, M; Hara, J; Shiohara, M; Kojima, S; Sato, T; Takihara, Y; Kobayashi, M.

Ishikawa N; Department of Pediatrics, Hiroshima, University Graduate School of Biomedical Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.

J Med Genet ; 45(12): 802-7, 2008 Dec.

Article en En | MEDLINE | ID: mdl-18611981

Asunto(s)

Discapacidades del Desarrollo/genética; Mutación; Neutropenia/congénito; Neutropenia/genética; Proteínas/genética; Proteínas Adaptadoras Transductoras de Señales; Secuencia de Bases; Femenino; Homocigoto; Humanos; Lactante; Masculino; Datos de Secuencia Molecular; Linaje

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas / Discapacidades del Desarrollo / Mutación / Neutropenia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male Idioma: En Año: 2008 Tipo del documento: Article

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