Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome-Reference-Cited by-同舟云学术

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome

Published:2019-11 Issue:5 Volume:105 Page:1016-1022
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Alsaif Hessa S.,Al-Owain Mohammad,Barrios-Llerena Martin E.,Gosadi Ghada,Binamer Yousef,Devadason David,Ravenscroft Jane,Suri Mohnish,Alkuraya Fowzan S.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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