A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2

Human Genetics

Volumn 97, Issue 2, 1996, Pages 224-227

  Kluwe, Lan ^a   Mautner, Victor F ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Allgemeines Krankenhaus Eilbek   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; GENE PRODUCT; GLYCINE; PROLINE;

ABDOMINAL TUMOR; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CANCER INHIBITION; CASE REPORT; CODON; EXON; FEMALE; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MISSENSE MUTATION; NEURILEMOMA; NEUROFIBROMATOSIS; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADULT; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, NEUROFIBROMATOSIS 2; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NEURILEMMOMA; NEUROFIBROMATOSIS 2; PEDIGREE; PHENOTYPE; POINT MUTATION; TINNITUS;

EID: 0030025114     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02265270     Document Type: Article

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