Literature DB >> 7607647

A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level.

V Régnier1, G Danglot, V C Nguyen, A Bernheim.   

Abstract

We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7607647     DOI： 10.1007/BF00214202

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  NF1-related locus on chromosome 15.

Authors:  E Legius; D A Marchuk; B K Hall; L B Andersen; M R Wallace; F S Collins; T W Glover
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736

2.  A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

Authors:  D A Marchuk; R Tavakkol; M R Wallace; B H Brownstein; P Taillon-Miller; C T Fong; E Legius; L B Andersen; T W Glover; F S Collins
Journal:  Genomics       Date:  1992-07       Impact factor: 5.736

3.  A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Authors:  R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

4.  Unequal expression of NF1 alleles.

Authors:  S Hoffmeyer; G Assum; D Kaufmann; W Krone
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

5.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Authors:  D Viskochil; A M Buchberg; G Xu; R M Cawthon; J Stevens; R K Wolff; M Culver; J C Carey; N G Copeland; N A Jenkins
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

6.  Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

Authors:  M R Wallace; D A Marchuk; L B Andersen; R Letcher; H M Odeh; A M Saulino; J W Fountain; A Brereton; J Nicholson; A L Mitchell
Journal:  Science       Date:  1990-07-13       Impact factor: 47.728

7.  Genomic analysis of a NF1-related pseudogene on human chromosome 21.

Authors:  H Suzuki; N Ozawa; C Taga; T Kano; M Hattori; Y Sakaki
Journal:  Gene       Date:  1994-09-30       Impact factor: 3.688
  7 in total
  3 in total

1.  A search for evidence of somatic mutations in the NF1 gene.

Authors:  A M John; M Ruggieri; R Ferner; M Upadhyaya
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

Authors:  S M Purandare; R Cawthon; L M Nelson; S Sawada; W S Watkins; K Ward; L B Jorde; D H Viskochil
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

Authors:  S A Rasmussen; S D Colman; V T Ho; C R Abernathy; P H Arn; L Weiss; C Schwartz; R A Saul; M R Wallace
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.