A novel missense mutation in theNSDHLgene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome-Reference-Cited by-同舟云学术

A novel missense mutation in theNSDHLgene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

Published:2015-04-21 Issue:6 Volume:167 Page:1342-1348
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Preiksaitiene Egle¹,Caro Alfonso²,Benušienė Eglė¹,Oltra Silvestre²,Orellana Carmen²,Morkūnienė Aušra¹,Roselló Mónica Pilar²,Kasnauskiene Jurate¹,Monfort Sandra²,Kučinskas Vaidutis¹,Mayo Sonia²,Martinez Francisco²

Affiliation:

1. Department of Human and Medical Genetics; Faculty of Medicine; Vilnius University; Vilnius Lithuania

2. Unidad de Genética; Grupo de Investigación Traslacional en Genética; Hospital Universitario y Politécnico La Fe; Valencia Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36999/fullpdf

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