The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

Human Molecular Genetics

Volumn 16, Issue 20, 2007, Pages 2411-2422

  Fu, Li ^a   Garland, Donita ^b   Yang, Zhenglin ^c   Shukla, Dhananjay ^c   Rajendran, Anand ^c   Pearson, Erik ^b   Stone, Edwin M ^d   Zhang, Kang ^b   Pierce, Eric A ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c ARAVIND EYE HOSPITAL   (India)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBULIN; FIBULIN 3; GENOMIC DNA; PROTEIN EFEMP1; SCLEROPROTEIN; TISSUE INHIBITOR OF METALLOPROTEINASE 3; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRUCH MEMBRANE; CLINICAL ARTICLE; CONTROLLED STUDY; EXTRACELLULAR MATRIX; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENOTYPE; HAPLOTYPE; HUMAN; INFLAMMATION; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; RETINA MACULA AGE RELATED DEGENERATION;

ADOLESCENT; ADULT; AGED; ANIMALS; ARGININE; CHILD; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MACULAR DEGENERATION; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MIDDLE AGED; PEDIGREE; POINT MUTATION; TRYPTOPHAN;

MUS;

EID: 34848894584     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm198     Document Type: Article

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