3[3]Mautmer VF,Laute S,Schneider E,ct al.Neurofibromatosis:current clinical and molecular genetic aspects from the neurologic[J].Viewpoint Nervenarzt,1991,62(6):340-348
二级参考文献26
1O'Connell P, Leach RJ, Ledbetter DH, et al. Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type Ⅰ. Am J Hum Genet, 1989,44( 1 ) :51-57.
2Li Y, O'Connell P, Breidenbach HH, et al. Genomic organization of the neurofibromatosis 1 gene ( NF1 ). Genomics, 1995, 25 ( 1 ) :9-18.
3Marchuk DA, Saulino AM, Tavakkol R, et al. cDNA cloning of the type Ⅰ neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics, 1991,11 (4) :931-940.
4Osborn M, Cooper DN, Upadhyaya M. Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 ( NF1 ) gene: identification of five sequence variants. Clin Genet, 2000, 57(3) :221-224.
5Buske A, Gewies A, Lehmann R, et al. Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 ( NF1 ).Am J Med Genet, 1999, 86(4) :328-330.
6Maynard J, Krawczak M, Upadhyaya M. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet, 1997, 99(5) :674-676.
7Park VM, Kenwright KA, Sturtevant DB, etal. Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet,1998, 103(4) :382-385.
8Klose A, Robinson N, Gewies A, et al. Two novel mutations in exons 19a and 20 and a BsaBI [ correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene. Hum Genet,1998, 102(3) :367-371.
9Fang LJ, Simard MJ, Vidaud D, et al. A novel mutation in the neurofibromatosis type 1 ( NF1 ) gene promotes skipping of two exons by preventing exon definition. J Mol Biol, 2001,307(5) :1261-1270.
10Boulandet EG, Pantel J, Cazeneuve C,et al. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1. Hum Mutat, 2000, 16(3) :274-275.