Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.

Fernández, Raquel M; Peciña, Ana; Muñoz-Cabello, Beatriz; Antiñolo, Guillermo; Borrego, Salud

Fernández, Raquel M; Peciña, Ana; Muñoz-Cabello, Beatriz; Antiñolo, Guillermo; Borrego, Salud.

Afiliación

Fernández RM; Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
Peciña A; Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
Muñoz-Cabello B; Department of Pediatrics University Hospital Virgen del Rocío Seville Spain.
Antiñolo G; Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
Borrego S; Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.

Clin Case Rep ; 4(9): 879-84, 2016 09.

Article en En | MEDLINE | ID: mdl-27648268

Palabras clave

CharcotMarieTooth 1A; cosegregation; doubletrouble cases; genetic analysis; spinal muscular atrophy

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2016 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google