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Article

A novel LMX1B nonsense mutation in a family with nail-patella syndrome.

Journal of dermatological science - 1 Oct 2008

Oshimo Tomoko, Fukai Kazuyoshi, Higashi Nobuhiko, Kitano Toshio, Imai Yuuki, Shintaku Haruo, Ishii Masamitsu

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PMID: 18562181
DOI: 10.1016/j.jdermsci.2008.04.014

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel LMX1B nonsense mutation in a family with nail-patella syndrome.PMID 18562181Read ↗

Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.Semantic proximity Read ↗

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

Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese FamilySemantic 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 ↗

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

A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.Semantic proximity Read ↗

LMX1B mutations with nails and kneecaps: a new paradigm?Semantic proximity Read ↗

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndromeSemantic 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 ↗

Nail Patella Syndrome Diagnosed in a Proband With Renal Failure Through Skeletal and Nail Deformities in Her Offspring: A Case Report of a Novel De Novo Genetic Defect in the LMX1B Gene.Semantic proximity Read ↗

A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.Semantic proximity Read ↗

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

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