Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American Journal of Human Genetics

Volumn 86, Issue 2, 2010, Pages 248-253

  Poulter, James A ^a   Ali, Manir ^a   Gilmour, David F ^a   Rice, Aine ^a   Kondo, Hiroyuki ^b   Hayashi, Kenshi ^c   Mackey, David A ^d,e   Kearns, Lisa S ^e   Ruddle, Jonathan B ^e   Craig, Jamie E ^f   Pierce, Eric A ^g   Downey, Louise M ^a,h   Mohamed, Moin D ⁱ   Markham, Alexander F ^a   Inglehearn, Chris F ^a   Toomes, Carmel ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f FLINDERS MEDICAL CENTRE   (Australia)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h HULL ROYAL INFIRMARY   (United Kingdom)

ⁱ ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; FRIZZLED PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; MEMBRANE PROTEIN; PROTEIN NDP; PROTEIN TSPAN12; SECRETED FRIZZLED RELATED PROTEIN 4; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL TRIAL; COHORT ANALYSIS; FAMILIAL DISEASE; FAMILIAL EXUDATIVE VITREORETINOPATHY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK FACTOR; SIGNAL TRANSDUCTION; VITREORETINOPATHY;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HUMANS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; RETINAL DISEASES; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

MUS;

EID: 76049125294     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.01.012     Document Type: Article

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