A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes-Reference-Cited by-同舟云学术

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A homozygousB3GAT3mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes

Published:2015-06-18 Issue:11 Volume:167 Page:2691-2696
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Jones Kelly L.¹,Schwarze Ulrike²,Adam Margaret P.¹,Byers Peter H.²³,Mefford Heather C.¹

Affiliation:

1. Division of Genetic Medicine; Department of Pediatrics; University of Washington & Seattle Children's Hospital; Seattle Washington

2. Department of Pathology; University of Washington; Seattle Washington

3. Department of Medicine; University of Washington; Seattle Washington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37209/fullpdf

Reference20 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects;Baasanjav;Am J Hum Genet,2011

3. Functions of cell surface heparin sulfate proteoglycans;Bernfield;Annu Rev Biochem,1999

4. Heparan sulphate proteoglycans fine-tune mammalian physiology;Bishop;Nature,2007

5. XYLT1 mutations in Desbuquois dysplasia type 2;Bui;Am J Hum Genet,2014

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