Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations

Human Genetics

Volumn 98, Issue 2, 1996, Pages 203-206

  Mautner, Victor F ^a   Baser, Michael E ^b,d   Kluwe, Lan ^c  

^a Allgemeines Krankenhaus Eilbek   (Germany)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 22Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; EYE MALFORMATION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; HUMAN; HUMAN CELL; MEDICAL ASSESSMENT; NERVOUS SYSTEM TUMOR; NEUROFIBROMATOSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; FEMALE; FRAMESHIFT MUTATION; GENES, NEUROFIBROMATOSIS 2; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NEUROFIBROMATOSIS 2; PEDIGREE; PHENOTYPE; RNA SPLICING;

EID: 0030012984     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050191     Document Type: Article

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