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Article

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.

American journal of medical genetics - 22 Apr 2002

Wu Yuan-Qing, Bejjani Bassem A, Tsui Lap-Chee, Mandel Ariane, Osborne Lucy R, Shaffer Lisa G

Abstract excerpt

Williams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essential for the docking of synaptic vesicles with the presynaptic plasma membrane. In this study, we refine the complete genomic structure of the human STX1A gene by direct...

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Identifiers

PMID: 11977160
DOI: 10.1002/ajmg.10321
PMCID: PMC2893211

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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