The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.

Authors:
Naessens S; De Zaeytijd J; Syx D; Vandenbroucke RE; Smeets F and 4 more

Journal:
Hum Mutat

Publication Year: 2019

DOI:
10.1002/humu.23713

PMCID:
PMC6594137

PMID:
30668888

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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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