Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan.

Jih, K-Y; Chung, C-P; Chang, Y-Y; Hung, P-L; Soong, B-W; Liao, Y-C; Lan, M-Y; Lee, Y-C

Jih, K-Y; Chung, C-P; Chang, Y-Y; Hung, P-L; Soong, B-W; Liao, Y-C; Lan, M-Y; Lee, Y-C.

Afiliación

Jih KY; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
Chung CP; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
Chang YY; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.
Hung PL; Department of Neurology and Center for Parkinson's disease, Chang Gung Memorial Hospital - Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Soong BW; Department of Pediatrics, Chang Gung Memorial Hospital - Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
Liao YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.
Lan MY; Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan.
Lee YC; Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.

Clin Genet ; 94(3-4): 389-390, 2018 10.

Article en En | MEDLINE | ID: mdl-29787619

Asunto(s)

Proteínas Reguladoras de la Apoptosis/genética; Proteínas Portadoras/genética; Hemangioma Cavernoso del Sistema Nervioso Central/genética; Proteína KRIT1/genética; Proteínas de la Membrana/genética; Mutación; Proteínas Proto-Oncogénicas/genética; China; Estudios de Cohortes; Etnicidad/genética; Hemangioma Cavernoso del Sistema Nervioso Central/etnología; Humanos

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Proteínas Proto-Oncogénicas / Hemangioma Cavernoso del Sistema Nervioso Central / Proteínas Reguladoras de la Apoptosis / Proteína KRIT1 / Proteínas de la Membrana / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Taiwán

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