A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations-Reference-Cited by-同舟云学术

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations

Published:2018-03-15 Issue:6 Volume:93 Page:1148-1158
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Ben-Mahmoud A.¹,Ben-Salem S.¹,Al-Sorkhy M.²,John A.¹,Ali B.R.¹³,Al-Gazali L.⁴^ORCID

Affiliation:

1. Department of Pathology, College of Medicine and Heath Sciences; United Arab Emirates University; Al Ain United Arab Emirates

2. College of pharmacy; Al Ain University of Science and Technology; Al Ain United Arab Emirates

3. Zayed Center for Health Sciences, United Arab Emirates University; Al Ain United Arab Emirates

4. Department of Paediatrics, College of Medicine and Heath Sciences; United Arab Emirates University; Al Ain United Arab Emirates

Funder

College of Medicine and Health Sciences, United Arab Emirates University, UAE

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13236/fullpdf

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5. The 2017 international classification of the Ehlers-Danlos syndromes;Malfait;Am J Med Genet Part C,2017

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