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Volumn 97, Issue 4, 1996, Pages 492-495

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA POLYMORPHISM; FEMALE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; RNA ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0029880743     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02267073     Document Type: Article
Times cited : (18)

References (24)
  • 1
    • 0028141430 scopus 로고
    • Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations
    • Bisceglia L, Grifa A, Zelante L, Gasparini P (1994) Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations. Hum Mutat 4: 136-140
    • (1994) Hum Mutat , vol.4 , pp. 136-140
    • Bisceglia, L.1    Grifa, A.2    Zelante, L.3    Gasparini, P.4
  • 4
    • 0027379865 scopus 로고
    • An analysis of variation in expression of neurofibromatosis (NF) type I (NF1): Evidence for modifying genes
    • Easton D, Ponder M, Huson S, Ponder B (1993) An analysis of variation in expression of neurofibromatosis (NF) type I (NF1): evidence for modifying genes. Am J Hum Genet 53: 305-313
    • (1993) Am J Hum Genet , vol.53 , pp. 305-313
    • Easton, D.1    Ponder, M.2    Huson, S.3    Ponder, B.4
  • 5
    • 0026816352 scopus 로고
    • Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: Application to the study of some common cystic fibrosis mutations
    • Gasparini P, Bonizzato A, Dognini M, Pignatti PF (1992) Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations. Mol Cell Probes 6: 1-7
    • (1992) Mol Cell Probes , vol.6 , pp. 1-7
    • Gasparini, P.1    Bonizzato, A.2    Dognini, M.3    Pignatti, P.F.4
  • 6
    • 0027434848 scopus 로고
    • Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: Implications for the diagnosis and screening of genetic diseases
    • Gasparini P, Grifa A, Origone P, Coviello D, Antonacci R, Rocchi M (1993) Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases. Mol Cell Probes 7: 415-418
    • (1993) Mol Cell Probes , vol.7 , pp. 415-418
    • Gasparini, P.1    Grifa, A.2    Origone, P.3    Coviello, D.4    Antonacci, R.5    Rocchi, M.6
  • 9
    • 0024456038 scopus 로고
    • A genetic study of von Recklinghausen neurofibromatosis in south-east Wales. Prevalence, fitness, mutation rate, and effect of parental transmission on severity
    • Huson SM, Compston D, Clarke P, Harper P (1989) A genetic study of von Recklinghausen neurofibromatosis in south-east Wales. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26: 704-711
    • (1989) J Med Genet , vol.26 , pp. 704-711
    • Huson, S.M.1    Compston, D.2    Clarke, P.3    Harper, P.4
  • 15
    • 0025909212 scopus 로고
    • Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation
    • Nishi T, Lee P, Oka K, Levi V, Tanase S, Monno Y, Saya M (1991) Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. Oncogene 6: 1555-1559
    • (1991) Oncogene , vol.6 , pp. 1555-1559
    • Nishi, T.1    Lee, P.2    Oka, K.3    Levi, V.4    Tanase, S.5    Monno, Y.6    Saya, M.7
  • 17
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): Comparison with DNA-SSCP
    • Sarkar G, Yoon H-S, Sommer S (1992) Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res 20: 871-878
    • (1992) Nucleic Acids Res , vol.20 , pp. 871-878
    • Sarkar, G.1    Yoon, H.-S.2    Sommer, S.3
  • 18
    • 0027528817 scopus 로고
    • NF1: A prevalent cause of tumorigenesis in human cancers ?
    • Seizinger B (1993) NF1: a prevalent cause of tumorigenesis in human cancers ? Nat Genet 3:97-99
    • (1993) Nat Genet , vol.3 , pp. 97-99
    • Seizinger, B.1
  • 19
    • 0028834145 scopus 로고
    • A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene
    • Shattuck-Eidens D, et al (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. JAMA 273: 535-541
    • (1995) JAMA , vol.273 , pp. 535-541
    • Shattuck-Eidens, D.1
  • 20
    • 13344271588 scopus 로고
    • Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain
    • Suzuki Y, Suzuki H, Kaymana T, Yoshimoto T, Shibahara S (1991) Brain tumors predominantly express the neurofibromatosis type 1 gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain. Biochem Biophys Res Commun 187: 984-990
    • (1991) Biochem Biophys Res Commun , vol.187 , pp. 984-990
    • Suzuki, Y.1    Suzuki, H.2    Kaymana, T.3    Yoshimoto, T.4    Shibahara, S.5
  • 21
    • 0028120348 scopus 로고
    • Molecular basis of neurofibromatosis type 1(NF1): Mutation analysis and polymor-phisms in the NF1 gene
    • Upadhyaya M, Shaw D, Harper P (1994) Molecular basis of neurofibromatosis type 1(NF1): mutation analysis and polymor-phisms in the NF1 gene. Hum Mutat 4:83-101
    • (1994) Hum Mutat , vol.4 , pp. 83-101
    • Upadhyaya, M.1    Shaw, D.2    Harper, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.