Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
暂无分享,去创建一个
R. Heim | L. Kam-Morgan | C. Binnie | D. D. Corns | M. Cayouette | R. Farber | A. Aylsworth | L. Silverman | M. Luce | L M Silverman | R A Farber | M C Luce | R A Heim | L N Kam-Morgan | C G Binnie | D D Corns | M C Cayouette | A S Aylsworth | David D. Corns
[1] T. Yoshimoto,et al. 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. , 1991, Biochemical and biophysical research communications.
[2] B. Brownstein,et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. , 1990, Science.
[3] M. Cayouette,et al. Mutational analysis of patients with neurofibromatosis, type 1 (NF1) and malignant myeloid disorders using a protein truncation assay. , 1995 .
[4] David Valle,et al. The skipping of constitutive exons in vivo induced by nonsense mutations , 1993, Science.
[5] U. K. Laemmli,et al. Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4 , 1970, Nature.
[6] A. Matynia,et al. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. , 1993, American journal of human genetics.
[7] K. Kinzler,et al. Molecular diagnosis of familial adenomatous polyposis. , 1993, The New England journal of medicine.
[8] P. O'Connell,et al. Genomic organization of the neurofibromatosis 1 gene (NF1). , 1995, Genomics.
[9] D. Louis,et al. Mutational analysis of patients with neurofibromatosis 2. , 1994, American journal of human genetics.
[10] M. Skolnick,et al. The Genetic Aspects of Neurofibromatosis a , 1986, Annals of the New York Academy of Sciences.
[11] A. Harris,et al. The stop mutation R553X in the CFTR gene results in exon skipping. , 1994, Genomics.
[12] F. Tamanoi,et al. The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cerevisiae , 1990, Cell.
[13] Simeon I. Taylor,et al. A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[14] Shirley A. Miller,et al. A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.
[15] H. Dietz,et al. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection , 1994, Nature Genetics.
[16] M. Wigler,et al. The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins , 1990, Cell.
[17] R. Sinden,et al. DNA structure, mutations, and human genetic disease. , 1992, Current opinion in biotechnology.
[18] F. Collins,et al. Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients , 1992, Nature.
[19] S. Baserga,et al. Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[20] N. Copeland,et al. Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway , 1990, Nature.
[21] J. D. den Dunnen,et al. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. , 1993, Human molecular genetics.
[22] D. Lowy,et al. Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis , 1992, Cell.
[23] M. Inouye,et al. Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday. , 1966, Cold Spring Harbor symposia on quantitative biology.
[24] A. Hamosh,et al. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. , 1991, The Journal of clinical investigation.
[25] F. Giannelli,et al. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. , 1993, Human molecular genetics.
[26] M. Skolnick,et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. , 1995, JAMA.
[27] M. Boguski,et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. , 1991, Genomics.
[28] H. Saya,et al. Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation. , 1991, Oncogene.
[29] M. Lerman,et al. Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. , 1994, Human molecular genetics.
[30] D. Shaw,et al. Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene , 1994, Human mutation.
[31] R. Weleber,et al. Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. , 1992, American journal of human genetics.
[32] J. Sambrook,et al. Molecular Cloning: A Laboratory Manual , 2001 .
[33] P. O'Connell,et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus , 1990, Cell.
[34] G. Sarkar,et al. Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity. , 1989, Science.
[35] Margaret Robertson,et al. The neurofibromatosis type 1 gene encodes a protein related to GAP , 1990, Cell.
[36] P. O'Connell,et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations , 1990, Cell.
[37] P. Chomczyński,et al. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.
[38] R. Heim,et al. Screening for truncated NF1 proteins , 1994, Nature Genetics.
[39] G. Myers. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals , 1991 .