TGFBI (BIGH3) gene mutations in Hungary - Report of the novel F547S mutation associated with polymorphic corneal amyloidosis

Molecular Vision

Volumn 13, Issue , 2007, Pages 1976-1983

  Takács, Lili ^a   Losonczy, Gergely ^a   Matesz, Klára ^a   Balogh, István ^a   Sohajda, Zoltán ^b   Tóth, Károly ^c   Fazakas, Ferenc ^a   Vereb, György ^a   Berta, András ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b Kenezy Korhaz Rendelointezet   (Hungary)

^c City Hospital Kazincbarcika   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; CYSTEINE; PHENYLALANINE; SERINE; THREONINE; TRANSFORMING GROWTH FACTOR BETA;

AMINO ACID SUBSTITUTION; AMYLOIDOSIS; ARTICLE; CONTROLLED STUDY; CORNEA AMYLOIDOSIS; CORNEA DYSTROPHY; DIAGNOSTIC VALUE; ELECTRON MICROSCOPY; EXON; FAMILY STUDY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUNGARY; IMMUNOHISTOCHEMISTRY; IMMUNOHISTOLOGY; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PENETRATING KERATOPLASTY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; AMYLOIDOSIS; BASE SEQUENCE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; HETEROZYGOTE; HUMANS; HUNGARY; KERATOPLASTY, PENETRATING; MIDDLE AGED; MUTATION; PHENYLALANINE; SERINE; TRANSFORMING GROWTH FACTOR BETA;

EID: 35548981695     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

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