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Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.

Ophthalmology. Retina - 1 Oct 2020

Vaclavik Veronika, Tran Hoai Viet, Schorderet Md PhD Daniel F

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PMID: 33019987
DOI: 10.1016/j.oret.2020.04.015

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Malattia Leventinese: EFEMP1 R345W Variant Is a Hot Spot Mutation, Not a Founder Mutation.PMID 33019987Read ↗

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophySemantic proximity Read ↗

Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Semantic proximity Read ↗

Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.Semantic proximity Read ↗

Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.Semantic proximity Read ↗

Dominant radial drusen and Arg345Trp EFEMP1 mutation.Semantic proximity Read ↗

EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the PhilippinesSemantic proximity Read ↗

Hb Muskegon [beta 83(EF7)Gly-->Arg]: a new variant found in a family from the U.S.Semantic proximity Read ↗

Analysis of the EFEMP1 gene in individuals and families with early onset drusen.Semantic proximity Read ↗

EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.Semantic proximity Read ↗

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.Semantic proximity Read ↗

A Novel Haplotype with the R345W Mutation in the<i>EFEMP1</i>Gene Associated with Autosomal Dominant Drusen in a Japanese FamilySemantic proximity Read ↗

EFEMP1 is not associated with sporadic early onset drusen.Semantic proximity Read ↗

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