Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

American Journal of Medical Genetics

Volumn 77, Issue 3, 1998, Pages 228-233

  Kluwe, Lan ^a   MacCollin, Mia ^b   Tatagiba, Marcos ^a   Thomas, Sebastian ^a   Hazim, Wasim ^c   Haase, Wolfgang ^c   Mautner, Victor F ^d  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c Nordstadtkrankenhaus Hannover ^*  (Germany)

^d Klinik Ochsenzoll   (Germany)

Author keywords

Geno phenotype correlation; Meningiomas; Neurofibromatosis type 2; Splice site mutations; Vestibular schwannomas

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; DISEASE CLASSIFICATION; FEMALE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MENINGIOMA; NEURILEMOMA; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING;

ADOLESCENT; ADULT; AGED; CHILD; COHORT STUDIES; ELECTROPHORESIS, AGAR GEL; FEMALE; GENES, NEUROFIBROMATOSIS 2; HUMANS; MALE; MIDDLE AGED; NEUROFIBROMATOSIS 2; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; TEMPERATURE;

LONCHOCARPUS GLAUCIFOLIUS;

EID: 0032543266     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980518)77:3<228::AID-AJMG8>3.0.CO;2-L     Document Type: Article

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