Exome sequencing reveals three homozygous missense variants inSNRPAin two sisters with syndromic intellectual disability-Reference-Cited by-同舟云学术

Exome sequencing reveals three homozygous missense variants inSNRPAin two sisters with syndromic intellectual disability

Published:2018-03-09 Issue:6 Volume:93 Page:1229-1233
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Rangel-Sosa M.M.¹,Figuera-Villanueva L.E.²³,González-Ramos I.A.⁴,Pérez-Páramo Y.X.¹,Martínez-Jacobo L.A.¹,Arnaud-López L.⁵,Nastasi-Catanese J.A.⁶,Rivas-Estilla A.M.¹,Galán-Huerta K.A.¹,Rojas-Martínez A.⁷,Ortiz-López R.⁷,Córdova-Fletes C.¹^ORCID

Affiliation:

1. Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina; Universidad Autónoma de Nuevo León; Monterrey Mexico

2. División de Genética; Centro de Investigación Biomédica de Occidente, CMNO-IMSS; Guadalajara Mexico

3. Doctorado en Genética Humana; CUCS-Universidad de Guadalajara; Guadalajara Mexico

4. Departamento de Genética, Facultad de Medicina; Universidad Autónoma de Guadalajara; Guadalajara Mexico

5. Genética Médica, División de Pediatría; Nuevo Hospital Civil “Dr. Juan I. Menchaca”; Guadalajara Mexico

6. Núcleo Bolívar; Universidad de Oriente; Ciudad Bolívar Venezuela

7. Escuela de Medicina y Ciencias de la Salud; Tecnológico de Monterrey; Monterrey Mexico

Funder

Consejo Nacional de Ciencia y Tecnología

PAICYT

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13235/fullpdf

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