Presence of the R1748X mutation in the NF1 Gene in a Brazilian patient with ectropion uveae

Ophthalmic Research

Volumn 36, Issue 6, 2004, Pages 349-352

  Trovó Marqui, Alessandra B ^a   Goloni Bertollo, Eny M ^b   Teixeira, Marta F ^b   Tajara, Eloiza H ^a,b  

^a SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^b FACULDADE DE MEDICINA DE SÃO JOSÉ DO RIO PRETO   (Brazil)

Author keywords

Ectropion uveae; Mutation; Neurofibromatosis type 1

Indexed keywords

NEUROFIBROMIN;

ADULT; ANAMNESIS; ARTICLE; BRAZIL; CASE REPORT; CLINICAL FEATURE; ECTROPION; FEMALE; GENE MUTATION; HUMAN; LABORATORY TEST; NEUROFIBROMATOSIS; PRIORITY JOURNAL;

DNA MUTATIONAL ANALYSIS; ECTROPION; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; UVEAL DISEASES;

EID: 11244250692     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000081638     Document Type: Article

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