Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome-Reference-Cited by-同舟云学术

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Published:2018-04 Issue:4 Volume:102 Page:696-705
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Blackburn Patrick R.,Xu Zhi,Tumelty Kathleen E.,Zhao Rose W.,Monis William J.,Harris Kimberly G.,Gass Jennifer M.,Cousin Margot A.,Boczek Nicole J.,Mitkov Mario V.,Cappel Mark A.,Francomano Clair A.,Parisi Joseph E.,Klee Eric W.,Faqeih Eissa,Alkuraya Fowzan S.,Layne Matthew D.,McDonnell Nazli B.,Atwal Paldeep S.

Funder

Mayo Clinic Center for Individualized Medicine (CIM) through the CIM Investigative and Functional Genomics Program

Intramural Research Program of the National Institutes of Health, National Institute on Aging

The American Heart Association

NIH

UROP award from Boston University

Saudi Human Genome Program

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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