Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome.

Chacon-Camacho, Oscar F; Arce-Gonzalez, Rocio; Villegas-Ruiz, Vanessa; Pelcastre-Luna, Erika; Uría-Gómez, Conrado E; Granillo-Alvarez, Mariella; Zenteno, Juan C

Chacon-Camacho, Oscar F; Arce-Gonzalez, Rocio; Villegas-Ruiz, Vanessa; Pelcastre-Luna, Erika; Uría-Gómez, Conrado E; Granillo-Alvarez, Mariella; Zenteno, Juan C.

Afiliação

Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Arce-Gonzalez R; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Villegas-Ruiz V; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Pelcastre-Luna E; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
Uría-Gómez CE; Laboratorio de Genética, Facultad de Medicina, UAEM, Toluca, State of Mexico, Mexico.
Granillo-Alvarez M; Department of Obstetrics and Gynaecology, HGZ No. 76, Instituto Mexicano del Seguro Social, State of Mexico, Mexico.
Zenteno JC; Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico ; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.

Meta Gene ; 2: 25-31, 2014 Dec.

Article em En | MEDLINE | ID: mdl-25606386

Palavras-chave

CFNS; Craniofrontonasal syndrome; EFNB1; Nonsense-mediated decay

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Meta Gene Ano de publicação: 2014 Tipo de documento: Article

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