Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.

Authors:
Cotterill SL; Jackson GC; Leighton MP; Wagener R; Mäkitie O and 2 more

Journal:
Hum Mutat

Publication Year: 2005

DOI:
10.1002/humu.20263

PMCID:
PMC2726956

PMID:
16287128

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Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"This work was supported in part by grants from the Wellcome Trust (060801 to M.D.B.), the European Commission (Grant QLG1-CT-2001-02188 to M.D.B. and others to support the European Skeletal Dysplasia Network; http://www.ESDN.org), and the Deutsch Forschungsgemeinschaft (Wa 1338/2-2 to R.W.) M.D.B. is the recipient of a Wellcome Trust Senior Research Fellowship in Basic Biomedical Sciences (071161). A full-length matrilin-3 cDNA clone was the kind gift of Dr. Debbie Krakow (Cedars Sinai Medical Center, Los Angeles, CA)."

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Last Updated: Aug 05, 2025