Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degenaration: A genetic model for age-related macular degeneration

Human Molecular Genetics

Volumn 12, Issue 20, 2003, Pages 2657-2667

  Hayward, Caroline ^a   Shu, Xinhua ^a   Cideciyan, Artur V ^b   Lennon, Alan ^a   Barran, Perdita ^c   Zareparsi, Sepideh ^d   Sawyer, Lindsay ^c   Hendry, Grace ^a   Dhillon, Baljean ^c   Milam, Ann H ^b   Luthert, Philip J ^e   Swaroop, Anand ^d   Hastie, Nicholas D ^a   Jacobson, Samuel G ^b   Wright, Alan F ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF MICHIGAN   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COLLAGEN TYPE 10; PROTEIN CTRP5; SERINE; UNCLASSIFIED DRUG;

ADHESION; ARTICLE; BRUCH MEMBRANE; CONTROLLED STUDY; EXTRACELLULAR SPACE; FAMILY STUDY; FEMALE; FOUNDER EFFECT; GENE MUTATION; GENETIC CODE; GENETIC CONSERVATION; GENETIC HETEROGENEITY; GENETIC MODEL; HUMAN; HUMAN TISSUE; MALE; MOLECULAR MECHANICS; MOLECULAR WEIGHT; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DOMAIN; PROTEIN INTERACTION; PROTEIN STRUCTURE; RETINA MACULA AGE RELATED DEGENERATION;

AGE OF ONSET; AGED; AGED, 80 AND OVER; AGING; AMINO ACID SEQUENCE; BLOTTING, WESTERN; CHROMOSOME MAPPING; COLLAGEN; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; MACULAR DEGENERATION; MALE; MIDDLE AGED; MODELS, GENETIC; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RETINA; RETINAL DEGENERATION; SEQUENCE HOMOLOGY, AMINO ACID; TIME FACTORS;

EID: 10744233559     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg289     Document Type: Article

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