Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1

Human Genetics

Volumn 112, Issue 1, 2003, Pages 12-17

  Upadhyaya, Meena ^a   Majounie, Elisa ^a   Thompson, Peter ^a   Han, Song ^a   Consoli, Claudia ^a   Krawczak, Michael ^b   Cordeiro, Isobel ^c   Cooper, David N ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF KIEL   (Germany)

^c HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BOY; CHROMOSOME MUTATION; CLINICAL ARTICLE; EVIDENCE BASED MEDICINE; EXON; FAMILY HISTORY; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NEUROPATHOLOGY; PORTUGAL; PRIORITY JOURNAL; PROBABILITY; CASE REPORT; CHILD; CHROMOSOME 17; FRAMESHIFT MUTATION; GENETICS; PEDIGREE; STOP CODON; TUMOR SUPPRESSOR GENE;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 17; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; NEUROFIBROMATOSIS 1; PEDIGREE;

EID: 0037209041     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0840-1     Document Type: Article

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