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LMX1B mutations with nails and kneecaps: a new paradigm?

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2014

Lemley Kevin V

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24166463
DOI: 10.1093/ndt/gft418

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Related research

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LMX1B mutations with nails and kneecaps: a new paradigm?PMID 24166463Read ↗

Gene symbol: LMX1B. Disease: Nail-patella syndrome.Semantic proximity Read ↗

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De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.Semantic proximity Read ↗

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.Semantic proximity Read ↗

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.Semantic proximity Read ↗

Identification of limb-specific <i>Lmx1b</i> auto-regulatory modules with Nail-Patella Syndrome pathogenicitySemantic proximity Read ↗

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manSemantic proximity Read ↗

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