Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

Al-Jezawi, Nesreen K; Ali, Bassam R; Al-Gazali, Lihadh

Al-Jezawi, Nesreen K; Ali, Bassam R; Al-Gazali, Lihadh.

Afiliación

Al-Jezawi NK; Department of Pathology, College of Medicine and Heath Sciences, Al-Ain, United Arab Emirates.
Ali BR; Department of Pathology, College of Medicine and Heath Sciences, Al-Ain, United Arab Emirates.
Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, Al-Ain, United Arab Emirates.

Am J Med Genet A ; 173(7): 1773-1781, 2017 Jul.

Article en En | MEDLINE | ID: mdl-28462984

Palabras clave

Desbuquois dysplasia (DBQD); XYLT1 (xylosyltransferase); autosomal recessive; skeletal dysplasia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Emiratos Árabes Unidos

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