An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
about
Neurofibromatosis type 2 appears to be a genetically homogeneous disease.Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel associationA genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counsellingCharacterisation of germline mutations in the neurofibromatosis type 1 (NF1) geneVaginal rhabdomyosarcoma in a patient with Noonan syndromeDouble inactivation of NF1 in tibial pseudarthrosis.A search for evidence of somatic mutations in the NF1 gene.Somatic mosaicism in a patient with neurofibromatosis type 1.Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.A highly sensitive genetic protocol to detect NF1 mutations.A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.The prenatal diagnosis of NF-1 and NF-2.Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.Lack of association of the (AAAT)6 allele of the GXAlu tetranucleotide repeat in intron 27b of the NF1 gene with autism.Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1?Identification of highly polymorphic microsatellites in the rhesus macaque Macaca mulatta by cross-species amplification.
P2860
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P2860
An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh
1991年學術文章
@zh-hant
name
An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
@en
type
label
An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
@en
prefLabel
An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
@en
P2093
P2860
P356
P1476
An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
@en
P2093
P2860
P356
10.1093/NAR/19.13.3764
P577
1991-07-01T00:00:00Z