Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): Evidence for more severe disease associated with truncating mutations

Journal of Medical Genetics

Volumn 35, Issue 6, 1998, Pages 450-455

  Evans, D G R ^a   Trueman, L ^b   Wallace, A ^a   Collins, S ^b   Strachan, T ^b  

^a ST MARY S HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Mutation; Neurofibromatosis type 2; Somatic mosaicism; Vestibular schwannoma

Indexed keywords

ACOUSTIC NEURINOMA; ADULT; ARTICLE; CHROMOSOME MOSAICISM; DELETION MUTANT; DISEASE COURSE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROFIBROMATOSIS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPLICEOSOME;

EID: 0031799509     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.6.450     Document Type: Article

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