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

Hamlington J.D., Jones C., McIntosh I.

We report twenty-two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice-site, three insertion/deletion and ten nonsense or frameshift mutations. A sub-set of five recurrent mutations within the homeodomain represents over one-quarter of the described NPS mutations. The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B.

Hum. Mutat. 18:458-458(2001) [PubMed] [Europe PMC]

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