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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 disorders and to improve molecular diagnostic methods, we have isolated three dinucleotide repeat markers in the PWS/AS...

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Identifiers

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

Genes

GABRB3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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