Novel mutations in the FUCA1 gene that cause fucosidosis.

Panmontha, W; Amarinthnukrowh, P; Damrongphol, P; Desudchit, T; Suphapeetiporn, K; Shotelersuk, V

Panmontha, W; Amarinthnukrowh, P; Damrongphol, P; Desudchit, T; Suphapeetiporn, K; Shotelersuk, V.

Afiliación

Panmontha W; Faculty of Medicine, Doctor of Philosophy Program in Medical Sciences, Chulalongkorn University, Bangkok, Thailand.
Amarinthnukrowh P; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Damrongphol P; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
Desudchit T; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Suphapeetiporn K; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
Shotelersuk V; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Genet Mol Res ; 15(3)2016 Sep 16.

Article en En | MEDLINE | ID: mdl-27706744

Asunto(s)

Fucosidosis/genética; Enfermedades por Almacenamiento Lisosomal/genética; alfa-L-Fucosidasa/genética; Adulto; Niño; Hibridación Genómica Comparativa; Exones/genética; Femenino; Fucosidosis/fisiopatología; Genes Recesivos; Humanos; Enfermedades por Almacenamiento Lisosomal/patología; Masculino; Mutación; Linaje; Fenotipo

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Texto completo: 1 Colección: 01-internacional Asunto principal: Enfermedades por Almacenamiento Lisosomal / Alfa-L-Fucosidasa / Fucosidosis Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Genet Mol Res Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2016 Tipo del documento: Article País de afiliación: Tailandia

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