Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

PLoS ONE

Volumn 2, Issue 8, 2007, Pages

  Orr, Andrew ^a   Dubé, Marie Pierre ^b   Marcadier, Julien ^c   Jiang, Haiyan ^a   Federico, Antonio ^d   Goerge, Stanley ^a   Seamone, Christopher ^a   Andrews, David ^a   Dubord, Paul ^e   Holland, Simon ^e   Provost, Sylvie ^b   Mongrain, Vanessa ^c   Evans, Susan ^c   Higgins, Brent ^f   Bowman, Sharen ^f   Guernsey, Duane ^a   Samuels, Mark ^a,g  

^a DALHOUSIE UNIVERSITY   (Canada)

^b MONTREAL HEART INSTITUTE   (Canada)

^c DALHOUSIE UNIVERSITY   (Canada)

^d UNIVERSITY OF SIENA   (Italy)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f Genome Atlantic Canada   (Canada)

^g UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; CHOLESTEROL; DIMETHYLALLYLTRANSFERASE; UBIAD1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANADA; CHOLESTEROL METABOLISM; CHOLESTEROL TRANSPORT; CHROMOSOME 1P; CHROMOSOME MAP; CLINICAL ARTICLE; COMPUTER PROGRAM; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; DYSLIPIDEMIA; FAMILY STUDY; FEMALE; GEOGRAPHIC DISTRIBUTION; HUMAN; LINKAGE ANALYSIS; LIPID STORAGE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRENYLATION; PROTEIN PROTEIN INTERACTION; SCHNYDER CRYSTALLINE CORNEA DYSTROPHY; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; ANIMALS; CHOLESTEROL; CHROMOSOME MAPPING; COMPUTATIONAL BIOLOGY; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DIMETHYLALLYLTRANSTRANSFERASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NOVA SCOTIA; PEDIGREE; PROTEIN CONFORMATION; PROTEINS; SEQUENCE ALIGNMENT;

EID: 34848877291     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0000685     Document Type: Article

References (54)