A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation

Ophthalmic Research

Volumn 46, Issue 3, 2011, Pages 164-167

  Paliwal, Preeti ^a   Gupta, Jaya ^b   Tandon, Radhika ^b   Kashyap, Seema ^b   Sen, Seema ^b   Agarwal, Aditi ^c   Bakshi, Ramendra ^c   Sharma, Arundhati ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^c Venu Eye Institute and Research Centre   (India)

Author keywords

Amyloid; Granular corneal dystrophy type 3; Molecular analysis; TGFBI variant

Indexed keywords

PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA INDUCED; TUMOR ASSOCIATED CALCIUM SIGNAL TRANSDUCER 2; UNCLASSIFIED DRUG;

AMYLOID PLAQUE; ARTICLE; BLOOD SAMPLING; BOWMAN LAYER DYSTROPHY; CLINICAL ARTICLE; CORNEA; CORNEA DISEASE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; KERATOPLASTY; PRIORITY JOURNAL; SLIT LAMP;

CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; FAMILY; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PLAQUE, AMYLOID; TRANSFORMING GROWTH FACTOR BETA1;

EID: 79953047168     PISSN: 00303747     EISSN: 14230259     Source Type: Journal    
DOI: 10.1159/000324651     Document Type: Article

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