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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

✍ Scribed by Iain McIntosh; Sandra D. Dreyer; Mark V. Clough; Jennifer A. Dunston; Wafa'a Eyaid; Carmen M. Roig; Tara Montgomery; Sirpa Ala-Mello; Ilkka Kaitila; Andreas Winterpacht; Bernhard Zabel; Moshe Frydman; William G. Cole; Clair A. Francomano; Brendan Lee


Book ID
117852649
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
293 KB
Volume
63
Category
Article
ISSN
0002-9297

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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

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Nail-patella syndrome (NPS) is a pleiotropic condition characterized by dysplasia of the nails, hypoplasia of the patellae, elbow dysplasia, and progressive kidney disease. The syndrome is inherited in an autosomal dominant manner and has been shown to result from mutations in the LIMhomeodomain enc