Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation-Reference-Cited by-同舟云学术

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Published:2017-02 Issue:2 Volume:19 Page:160-168
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Lam Christina,Ferreira Carlos,Krasnewich Donna,Toro Camilo,Latham Lea,Zein Wadih M.,Lehky Tanya,Brewer Carmen,Baker Eva H.,Thurm Audrey,Farmer Cristan A.,Rosenzweig Sergio D.,Lyons Jonathan J.,Schreiber John M.,Gropman Andrea,Lingala Shilpa,Ghany Marc G.,Solomon Beth,Macnamara Ellen,Davids Mariska,Stratakis Constantine A.,Kimonis Virginia,Gahl William A.,Wolfe Lynne

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201675.pdf

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1. Glycosylphosphatidylinositol anchors;Ferguson,2009

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