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Article

Two single base polymorphisms in introns 41 and 16 of the NF1 gene.

American journal of medical genetics - 24 Apr 1995

Shen M H, Upadhyaya M

Abstract excerpt

We have characterized two intragenic polymorphisms in the neurofibromatosis type 1 (NF1) gene by direct sequencing of PCR products. The variants for these polymorphisms were initially detected on Hydrolink gels. One of the polymorphisms involves a G to A transition in intron 41 at the 28th base upstream of exon 42 with an observed 'G'/'A' heterozygosity of 0.42. The other polymorphism is a T to C transition in...

Topics

Base Sequence
DNA Primers
Genes, Neurofibromatosis 1
Genetic Variation
Humans
Introns
Molecular Sequence Data
Neurofibromatosis 1
Polymerase Chain Reaction
Polymorphism, Genetic

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Identifiers

PMID: 7485249
DOI: 10.1002/ajmg.1320600211

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7485249-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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