Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function

American Journal of Medical Genetics, Part A

Volumn 146, Issue 3, 2008, Pages 271-283

  Weiss, Jayne S ^a,b   Kruth, Howard S ^c   Kuivaniemi, Helena ^b   Tromp, Gerard ^b   Karkera, Jayaprakash ^d   Mahurkar, Sunil ^d   Lisch, Walter ^e   Dupps Jr , William J ^f   White, Peter S ^g   Winters, R Scott ^g   Kim, Chaesik ^a,b   Rapuano, Christopher J ^h   Sutphin, John ⁱ   Reidy, Jim ^j   Hu, Fung Rong ^k   Da, Wen Lu ^l   Ebenezer, Neil ^m   Nickerson, Michael L ^d  

^a WAYNE STATE UNIVERSITY   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d TRANSGENOMIC INC   (United States)

^e Klinikum Hanau   (Germany)

^f LERNER RESEARCH INSTITUTE   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h WILLS EYE HOSPITAL   (United States)

ⁱ UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^j UNIVERSITY AT BUFFALO   (United States)

^k NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^l Dept of Orthopaedics   (Taiwan)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

Cholesterol; Cornea; Corneal dystrophy; Eye; Genetic disease; HDL; Hypercholesterolemia; LDL; Ocular; Phospholipids; Prenyltransferase; Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy; UBIAD1

Indexed keywords

APOLIPOPROTEIN E;

AFRICAN AMERICAN; ARTICLE; ASIAN; CAUCASIAN; CORNEA DYSTROPHY; DNA SEQUENCE; GENE; GENE MUTATION; GENE STRUCTURE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SCHNYDER CRYSTALLINE CORNEAL DYSTROPHY; SEQUENCE ANALYSIS; UBIAD1 GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; APOLIPOPROTEINS E; CHILD; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN BINDING; PROTEINS;

EID: 38949212779     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32201     Document Type: Article

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