Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos, Konstantinos
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. [electronic resource] - Scientific reports Sep 2015 - 13902 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2045-2322
10.1038/srep13902 doi
Amino Acid Sequence
Amino Acid Substitution
Cadherin Related Proteins
Cadherins--chemistry
Case-Control Studies
Chromosome Mapping
Consanguinity
DNA Mutational Analysis
Electroretinography
Female
Fluorescein Angiography
Genes, Recessive
Homozygote
Humans
Introns
Male
Molecular Sequence Data
Mutation
Nerve Tissue Proteins--chemistry
Pedigree
RNA Splice Sites
Retinal Dystrophies--diagnosis
Sequence Alignment
Spain
White People--genetics
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. [electronic resource] - Scientific reports Sep 2015 - 13902 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2045-2322
10.1038/srep13902 doi
Amino Acid Sequence
Amino Acid Substitution
Cadherin Related Proteins
Cadherins--chemistry
Case-Control Studies
Chromosome Mapping
Consanguinity
DNA Mutational Analysis
Electroretinography
Female
Fluorescein Angiography
Genes, Recessive
Homozygote
Humans
Introns
Male
Molecular Sequence Data
Mutation
Nerve Tissue Proteins--chemistry
Pedigree
RNA Splice Sites
Retinal Dystrophies--diagnosis
Sequence Alignment
Spain
White People--genetics