Somatic mosaicism in a patient with neurofibromatosis type 1

American Journal of Human Genetics

Volumn 58, Issue 3, 1996, Pages 484-490

  Colman, Steven D ^a   Rasmussen, Sonja A ^a   Ho, Vu T ^a   Abernathy, Corinne R ^a   Wallace, Margaret R ^a,b,c  

^a Center for Mammalian Genetics ^*  (United States)

^b UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONTROLLED STUDY; EXON; FEMALE; GENE DELETION; GERM LINE; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; MOSAICISM; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SOMATIC MUTATION;

ADULT; ALLELES; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA; DNA, NEOPLASM; FEMALE; FIBROBLASTS; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; MOSAICISM; NEUROFIBROMATOSIS 1; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0030070963     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Abernathy C, Colman SD, Wallace MR (1994) A PCR-based test for a polymorphism within the human NF1 gene. Clin Genet 45:313
2. Bakker E, Veenema H, Den-Dunnen JT, van-Broeckhoven C, Grootscholten PM, Bonten EJ, van-Ommen-GJ, et al (1989) Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J Med Genet 26:553-559
3. Bernards A, Gusella J (1994) The importance of genetic mosaicism in human disease. N Engl J Med 331:1447-1449
4. Boltshauser E, Stocker H, Mackler M (1989) Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis. Neurofibromatosis 2:244-245
5. Bourn D, Carter SA, Evans DGR, Goodship J, Coakham H, Strachan T (1994) A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals. Am J Hum Genet 55:69-73