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Article

Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia.

American journal of medical genetics - 8 Aug 2002

Hammond Linda, Castanotto Daniela, Rice Sharmon R, Nimgaonkar Vishwajit L, Wirshing Donna A, Rossi John J, Heston Leonard L, Sobell Janet L

Abstract excerpt

Aberrant splicing of pre-mRNA is recognized to account for a significant minority of disease-causing mutations. The N-methyl-D-aspartate receptor (NMDA) subunit gene R1 (NMDAR1) is alternatively spliced to produce eight length variants. In an examination of the NMDAR1 as a candidate gene in schizophrenia, a presumed microdeletion/insertion (del/ins) was observed in intron 10 of an African-American male near a...

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PMID: 12210277
DOI: 10.1002/ajmg.10646

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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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