Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)

Ophthalmic Genetics

Volumn 25, Issue 2, 2004, Pages 81-90

  Omoto, Satoshi ^a   Hayashi, Takaaki ^a   Kitahara, Kenji ^a   Takeuchi, Tomokazu ^a   Ueoka, Yasuo ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Candidate gene analysis; Genetics; Hereditary retinal disorder; Mutations

Indexed keywords

FRIZZLED PROTEIN; GENE PRODUCT; PROTEIN FZD4; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANGIOGENESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 11Q; EARLY DIAGNOSIS; FAMILIAL DISEASE; FEMALE; FZD4 GENE; GENE; GENE MUTATION; GENE SEGREGATION; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; INFANT; JAPAN; MICROVASCULARIZATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA BLOOD FLOW; SEQUENCE ANALYSIS; SPECIES IDENTIFICATION; VITREORETINOPATHY;

AMINO ACID SEQUENCE; CHROMOSOMES, HUMAN, PAIR 11; EXUDATES AND TRANSUDATES; FEMALE; FRIZZLED RECEPTORS; GENES, DOMINANT; HUMANS; INFANT; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEINS; RECEPTORS, CELL SURFACE; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE HOMOLOGY, AMINO ACID; VITREORETINOPATHY, PROLIFERATIVE; VITREOUS BODY;

VERTEBRATA;

EID: 6344276784     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1080/13816810490514270     Document Type: Article

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