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Article

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.

Human genetics - 1 Oct 1993

Lázaro C, Gaona A, Xu G, Weiss R, Estivill X

Abstract excerpt

We describe a polymorphic microsatellite in intron 38 of the neurofibromatosis type 1 (NF1) gene. The microsatellite consists of a CA/GT dinucleotide repeat detecting 8 alleles; it has a heterozygosity of 82%.

Topics

Alleles
Base Sequence
Chromosomes, Human, Pair 17
DNA
Gene Frequency
Genes, Neurofibromatosis 1
Genetic Markers
Humans
Introns
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8225327
DOI: 10.1007/BF01247353

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8225327-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.PMID 8225327Read ↗

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.Semantic proximity Read ↗

Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.Semantic proximity Read ↗

Ten base pair duplication in exon 38 of the NF1 gene.Semantic proximity Read ↗

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A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.Semantic proximity Read ↗

A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.Semantic proximity Read ↗

Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.Semantic proximity Read ↗

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.Semantic proximity Read ↗

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Single base polymorphism linked to the ataxia-telangiectasia locus is detected by mismatch PCR.Semantic proximity Read ↗

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