Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification

Ophthalmic Genetics

Volumn 37, Issue 1, 2016, Pages 37-43

  Karolak, Justyna A ^a,b   Polakowski, Piotr ^c   Szaflik, Jerzy ^c   Szaflik, Jacek P ^c   Gajecka, Marzena ^b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b INSTITUTE OF HUMAN GENETICS   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Candidate genes; keratoconus; molecular screening; TGFBI; VSX1

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; DIRECT SEQUENCING METHOD; DOCK9 GENE; EXON; EYE EXAMINATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HYPOTHESIS; IPO5 GENE; KERATOCONUS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STK24 GENE; TGFBI GENE; VERY ELDERLY; VSX1 GENE; YOUNG ADULT; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; MIDDLE AGED; POLAND; POLYMERASE CHAIN REACTION;

BETAIG-H3 PROTEIN; DOCK9 PROTEIN, HUMAN; EYE PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HOMEODOMAIN PROTEIN; IPO5 PROTEIN, HUMAN; KARYOPHERIN BETA; PROTEIN SERINE THREONINE KINASE; SCLEROPROTEIN; STK24 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA; VSX1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BETA KARYOPHERINS; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOMIC STRUCTURAL VARIATION; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HOMEODOMAIN PROTEINS; HUMANS; KERATOCONUS; MALE; MIDDLE AGED; POLAND; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 84960445560     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2014.926375     Document Type: Article

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