Author: "Roos, BR" / Journal: eye london england - Searchworks@Jio Institute Digital Library Search Results

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Start Over Author "Roos, BR" Journal eye london england

2 results on '"Roos, BR"'

1. A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.

Author: Schnieders MJ, Goar W, Griess M, Roos BR, Scheetz TE, Stone EM, and Fingert JH
Subjects: Genetic Predisposition to Disease, Humans, Pedigree, GTP Phosphohydrolases genetics, Mutation, Optic Atrophy, Autosomal Dominant genetics
Published: 2018
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2. Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene.

Author: Greiner MA, Terveen DC, Vislisel JM, Roos BR, and Fingert JH
Subjects: Adult, Female, Humans, Middle Aged, Pedigree, Fuchs' Endothelial Dystrophy genetics, Transcription Factor 4 genetics, Trinucleotide Repeat Expansion
Published: 2017
Full Text: View/download PDF

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