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

✍ Scribed by Jeanette D. Hamlington; Cheron Jones; Iain McIntosh

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 17 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1217

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✦ Synopsis

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.

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