A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Molecular vision

Volumn 14, Issue , 2008, Pages 1503-1512

  Wheeldon, Catherine E ^a   de Karolyi, Betina H ^a   Patel, Dipika V ^a   Sherwin, Trevor ^a   McGhee, Charles N J ^a   Vincent, Andrea L ^a  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

BETAIG H3 PROTEIN; BETAIG-H3 PROTEIN; SCLEROPROTEIN; TRANSFORMING GROWTH FACTOR BETA;

ADULT; AGED; ALLOTRANSPLANTATION; ARTICLE; BOWMAN MEMBRANE; CHILD; CONFOCAL MICROSCOPY; CONGENITAL CORNEA DYSTROPHY; CORNEA; CORNEA TRANSPLANTATION; EXON; FEMALE; GENETICS; GENOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; ULTRASTRUCTURE;

ADULT; AGED, 80 AND OVER; BASE SEQUENCE; BOWMAN MEMBRANE; CHILD; CHILD, PRESCHOOL; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL TRANSPLANTATION; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSFORMING GROWTH FACTOR BETA; TRANSPLANTATION, HOMOLOGOUS;

EID: 55949085267     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (0)