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PMID: 7607647 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Human genetics ·Vol. 96 ·No. 1 ·1995-07-00 ·Pages 131-2

Régnier V, Danglot G, Nguyen VC, Bernheim A

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.

Related Genes
NF1
MeSH Terms
Alleles Base Sequence Exons/genetics Humans Molecular Sequence Data Neurofibromatosis 1/genetics Polymerase Chain Reaction Polymorphism, Genetic RNA, Messenger/genetics RNA, Neoplasm/genetics
Chemicals
RNA, Messenger RNA, Neoplasm
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Régnier V
Laboratoire de Cytogénétique et Génétique Oncologiques, CNRS URA 1158, Institut Gustave Roussy, Villejuif, France.
Danglot G
Nguyen V C
Bernheim A
References (7)
7 references, click to expand
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    Cell. 1990 Jul 13;62(1):187-92 PMID: 1694727
  2. NF1-related locus on chromosome 15.
    Genomics. 1992 Aug;13(4):1316-8 PMID: 1505963
  3. Genomic analysis of a NF1-related pseudogene on human chromosome 21.
    Gene. 1994 Sep 30;147(2):277-80 PMID: 7926815
  4. Unequal expression of NF1 alleles.
    Nat Genet. 1994 Apr;6(4):331 PMID: 8054969
  5. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.
    Cell. 1990 Jul 13;62(1):193-201 PMID: 2114220
  6. A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.
    Genomics. 1992 Jul;13(3):672-80 PMID: 1639394
  7. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
    Science. 1990 Jul 13;249(4965):181-6 PMID: 2134734
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00214202
Published
1995-07-00
Pages
131-2
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Corrections
ErratumIn
-
External Links
PubMed source DOI: 10.1007/BF00214202 View journal details
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