Somatic NF1 Mutation Spectra in a Family with Neurofibromatosis Type 1: Toward a Theory of Genetic Modifiers

Human Mutation

Volumn 22, Issue 6, 2003, Pages 423-427

  Wiest, Verena ^a   Eisenbarth, Ingrid ^a,b   Schmegner, Claudia ^a   Krone, Winfrid ^a   Assum, Günter ^a  

^a UNIVERSITY OF ULM   (Germany)

^b OLGAHOSPITAL   (Germany)

Author keywords

Neurofibromatosis type 1; NF1; Somatic mutation, genetic modifiers

Indexed keywords

NEUROFIBROMIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA MODIFICATION; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; HEREDITY; HETEROZYGOSITY LOSS; HUMAN; NEUROFIBROMATOSIS; NF1 GENE; PHENOTYPE; POINT MUTATION; PREDICTION; PRIORITY JOURNAL; STOCHASTIC MODEL; TUMOR SUPPRESSOR GENE;

ADULT; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; HUMANS; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MODELS, GENETIC; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1;

EID: 0346363769     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10272     Document Type: Article

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