Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia

Human Mutation

Volumn 28, Issue 4, 2007, Pages 336-344

  Majava, Marja ^a   Bishop, Paul N ^b   Hägg, Pasi ^c   Scott, Paul G ^d   Rice, Aine ^e   Inglehearn, Chris ^e   Hammond, Christopher J ^f   Spector, Tim D ^f   Ala Kokko, Leena ^a,g   Männikkö, Minna ^a  

^a UNIVERSITY OF OULU   (Finland)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c OULU UNIVERSITY HOSPITAL   (Finland)

^d UNIVERSITY OF ALBERTA   (Canada)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g Connective Tissue Gene Tests ^*  (United States)

Author keywords

FMOD; High myopia; LUM; OPTC; PRELP; Sequence variations; SLRP

Indexed keywords

ARGININE; COLLAGEN FIBRIL; FIBROMODULIN; GLYCINE; HISTIDINE; LEUCINE; LUMICAN; SERINE; THREONINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EXTRACELLULAR MATRIX; FMOD GENE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; HIGH MYOPIA; HUMAN; INTRON; LUM GENE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPTC GENE; PATHOGENESIS; PRELP GENE; PRIORITY JOURNAL; PROTEIN DOMAIN; REFRACTION ERROR; RISK FACTOR; SEQUENCE ANALYSIS; SLRP GENE;

AMINO ACID SEQUENCE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; KERATAN SULFATE; LEUCINE; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MYOPIA; PEDIGREE; PROTEOCHONDROITIN SULFATES; PROTEOGLYCANS; SEQUENCE ALIGNMENT;

EID: 34047236557     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20444     Document Type: Article

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