Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Human Genetics

Volumn 124, Issue 4, 2008, Pages 379-386

  Burdon, Kathryn P ^a   Coster, Douglas J ^a   Charlesworth, Jac C ^b   Mills, Richard A ^a   Laurie, Kate J ^a   Giunta, Cecilia ^c   Hewitt, Alex W ^a   Latimer, Paul ^a   Craig, Jamie E ^a  

^a FLINDERS UNIVERSITY   (Australia)

^b SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

LENS PROTEIN; PROTEIN CTNNBIP1; PROTEIN ENO1; PROTEIN PLOD1; PROTEIN UBIAD1; UNCLASSIFIED DRUG;

ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; HAPLOTYPE; HUMAN; KERATOCONUS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; ANIMALS; AUSTRALIA; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 8; CORNEA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENES, DOMINANT; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOTYPE; HUMANS; KERATOCONUS; LINKAGE (GENETICS); LOD SCORE; MALE; MICE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 55749116326     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0555-z     Document Type: Article

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