Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

European Journal of Human Genetics

Volumn 20, Issue 4, 2012, Pages 389-397

  Czugala, Marta ^a   Karolak, Justyna A ^a   Nowak, Dorota M ^a   Polakowski, Piotr ^b   Pitarque, Jose ^c   Molinari, Andrea ^c   Rydzanicz, Malgorzata ^a   Bejjani, Bassem A ^d   Yue, Beatrice Y J T ^e   Szaflik, Jacek P ^b   Gajecka, Marzena ^a  

^a INSTITUTE OF HUMAN GENETICS   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c HOSPITAL METROPOLITANO   (Ecuador)

^d Signature Genomics   (United States)

^e UNIVERSITY OF ILLINOIS   (United States)

Author keywords

DOCK9; IPO5; keratoconus; keratoconus 13q32 locus; keratoconus gene; STK24

Indexed keywords

ARTICLE; CHROMOSOME 13Q; CHROMOSOME SUBSTITUTION STRAIN; CONTROLLED STUDY; DOCK 9 GENE; ECUADOR; ENVIRONMENTAL FACTOR; FARP 1 GENE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEREDITY; HUMAN; IPO 5 GENE; KERATOCONUS; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MBNL 1 GENE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; RNF113B GENE; STK 24 GENE; ZIC 2 GENE; ZIC 5 GENE;

CHROMOSOMES, HUMAN, PAIR 13; EYE PROTEINS; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; KERATOCONUS; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 84858333271     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.203     Document Type: Article

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