Characterization of the Somatic Mutational Spectrum of the Neurofibromatosis Type 1 (NF1) Gene in Neurofibromatosis Patients with Benign and Malignant Tumors

Human Mutation

Volumn 23, Issue 2, 2004, Pages 134-146

  Upadhyaya, Meena ^a   Han, Song ^a   Consoli, Claudia ^a   Majounie, Elisa ^a   Horan, Martin ^a   Thomas, Nick S ^a   Potts, Christopher ^a   Griffiths, Sian ^a   Ruggieri, Martino ^b   Von Deimling, Andreas ^c   Cooper, David N ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b CNR   (Italy)

^c HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Germline, somatic mutations; Neurofibromatosis type 1; NF1; Tumor, benign; Tumor, malignant

Indexed keywords

ARTICLE; ASTROCYTOMA; CDKN2A GENE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; GENE; GERM LINE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; NERVE SHEATH TUMOR; NEUROFIBROMA; NEUROFIBROMATOSIS; NF1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOMATIC MUTATION; TP53 GENE;

ALLELES; ASTROCYTOMA; CENTRAL NERVOUS SYSTEM NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; GENES, NEUROFIBROMATOSIS 1; GENES, P16; GENES, P53; GENOME, HUMAN; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; LYMPHOCYTES; MUTATION; NERVE SHEATH NEOPLASMS; NEUROFIBROMA; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PRECANCEROUS CONDITIONS; PSEUDOGENES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 10744220011     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10305     Document Type: Article

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