论文信息 - Prenatal diagnosis of sporadic neurofibromatosis 1 - 字舞流文

Prenatal diagnosis of sporadic neurofibromatosis 1

X. Estivill | C. Lázaro | T. Casals | V. Volpini | A. Ravella

[1] P. O'Connell,et al. An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1) , 1991, Nucleic Acids Res..

[2] B. Brownstein,et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. , 1990, Science.

[3] P. O'Connell,et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus , 1990, Cell.

[4] P. O'Connell,et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations , 1990, Cell.

[5] S. Huson,et al. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. , 1989, Journal of medical genetics.

[6] R. Williams,et al. A family with hereditary angioedema and multiple immunologic disorders. , 1987, The American journal of medicine.