Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

doi:10.1093/hmg/2.2.143

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Article

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Human molecular genetics - 1 Feb 1993

Mutirangura A, Greenberg F, Butler M G, Malcolm S, Nicholls R D, Chakravarti A, Ledbetter D H

Abstract excerpt

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by a deficiency of paternal (PWS) or maternal (AS) contributions for chromosome 15 by either deletion or uniparental disomy (UPD). To further study the molecular mechanisms involved in these di...

Topics

Alleles
Angelman Syndrome
Base Sequence
Chromosome Deletion
Chromosome Mapping
Chromosomes, Fungal
Chromosomes, Human, Pair 15
Female
Gene Library
Genetic Markers
Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Humans

Male

Meiosis

Models, Genetic

Molecular Sequence Data

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 8499903
DOI: 10.1093/hmg/2.2.143
PMCID: PMC6739235

Genes

GABRB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8499903-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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