Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

Human Genetics

Volumn 107, Issue 4, 2000, Pages 366-371

  Sestini, Roberta ^a   Vivarelli, Rossella ^c   Balestri, Paolo ^c   Ammannati, Franco ^b   Montali, Enrico ^a   Papi, Laura ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACOUSTIC NEURINOMA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHROMOSOME 22Q; CLINICAL ARTICLE; EPENDYMOMA; EXON; FAMILIAL INCIDENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; HUMAN CELL; LYMPHOCYTE; MENINGIOMA; MOSAICISM; MOTHER; NEUROFIBROMATOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADULT; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, NEUROFIBROMATOSIS 2; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MOSAICISM; MUTATION; NEUROFIBROMATOSIS 2; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0033764160     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000378     Document Type: Article

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