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Article

Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.

Somatic cell and molecular genetics - 1 Mar 1998

Cowley G S, Murthy A E, Parry D M, Schneider G, Korf B, Upadhyaya M, Harper P, MacCollin M, Bernards A, Gusella J F

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by inactivation of neurofibromin, a protein capable of modulating signal transduction by activating Ras-GTPase activity. We have used cDNA cloning and Northern blot analysis to confirm the NF1 gene produces alternatively polyadeny...

Topics

3' Untranslated Regions
Alleles
Alternative Splicing
Blotting, Northern
Female
Genes, Neurofibromatosis 1
Genetic Variation
Humans
Male
Mutation
Neurofibromatosis 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymorphism, Genetic

RNA, Messenger

Tissue Distribution

Source

Identifiers

PMID: 9919310
DOI: 10.1023/b:scam.0000007113.28381.53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9919310-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Genetic variation in the 3' untranslated region of the neurofibromatosis 1 gene: application to unequal allelic expression.PMID 9919310Read ↗

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