A recurrent mitochondrial p.Trp22ArgNDUFB3variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype-Reference-Cited by-同舟云学术

A recurrent mitochondrial p.Trp22ArgNDUFB3variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Published:2016-04-18 Issue:9 Volume:53 Page:634-641
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Alston Charlotte L,Howard Caoimhe,Oláhová Monika,Hardy Steven A,He Langping,Murray Philip G,O'Sullivan Siobhan,Doherty Gary,Shield Julian P H,Hargreaves Iain P,Monavari Ardeshir A,Knerr Ina,McCarthy Peter,Morris Andrew A M,Thorburn David R,Prokisch Holger,Clayton Peter E,McFarland Robert,Hughes Joanne,Crushell Ellen,Taylor Robert W

Funder

Wellcome Trust

Medical Research Council

National Institute for Health Research

Publisher

BMJ

Subject

Genetics (clinical),Genetics

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