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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

✍ Scribed by Dreyer, Sandra D.; Zhou, Guang; Baldini, Antonio; Winterpacht, Andreas; Zabel, Bernhard; Cole, William; Johnson, Randy L.; Lee, Brendan


Book ID
109916061
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
480 KB
Volume
19
Category
Article
ISSN
1061-4036

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Twenty-two novel LMX1B mutations identif
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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