Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients

Genetics and Molecular Biology

Volumn 27, Issue 3, 2004, Pages 326-330

  Trovó, Alessandra B ^a   Goloni Bertollo, Eny M ^b   Mancini, Ulises M ^a   Rahal, Paula ^a   de Azevedo Jr , Walter F ^a   Tajara, Eloiza Helena ^a  

^a SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

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

Author keywords

Gene NF1; GRD; Mutations; Neurofibromatosis type 1; Polymorphisms

Indexed keywords

NEUROFIBROMIN;

ADULT; ARTICLE; BRAZIL; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 24744460986     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572004000300003     Document Type: Article

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