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Article

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.

Genomics - 1 Sept 2004

Dunston Jennifer A, Hamlington Jeanette D, Zaveri Jayshree, Sweeney Elizabeth, Sibbring Julie, Tran Catherine, Malbroux Maria, O'Neill John P, Mountford Roger, McIntosh Iain

Abstract excerpt

LMX1B is a LIM-homeodomain transcription factor required for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Heterozygous loss-of-function mutations in LMX1B cause nail patella syndrome (NPS). To further understand LMX1B gene regulation and to identify pathogenic mutations within the coding region, a...

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Source

Identifiers

PMID: 15498463
DOI: 10.1016/j.ygeno.2004.06.002

Genes

NPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.PMID 15498463Read ↗

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