A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis-Reference-Cited by-同舟云学术

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis

Published:2005-09 Issue:3 Volume:77 Page:484-490
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Gleghorn Lindsay,Ramesar Rajkumar,Beighton Peter,Wallis Gillian

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference16 articles.

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2. A human-specific polymorphism in the coding region of the aggrecan gene: variable number of tandem repeats produce a range of core protein sizes in the general population;Doege;J Biol Chem,1997

3. Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan: human-specific repeats, and additional alternatively spliced forms;Doege;J Biol Chem,1991

4. Role of the C-terminal G3 domain in sorting and secretion of aggrecan core protein and ubiquitin-mediated degradation of accumulated mutant precursors;Domowicz;J Biol Chem,2000

5. Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene;Eyre;J Med Genet,2005

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