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
β¦ LIBER β¦
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
β 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
- DOI
- 10.1086/302165
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Twenty-two novel LMX1B mutations identif
β
Jeanette D. Hamlington; Cheron Jones; Iain McIntosh
π
Article
π
2001
π
John Wiley and Sons
π
English
β 17 KB
π 1 views
Restricted distribution of loss-of-funct
β
Mark V. Clough; Jeanette D. Hamlington; Iain McIntosh
π
Article
π
1999
π
John Wiley and Sons
π
English
β 277 KB
π 1 views
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
Mutations in LMX1B cause abnormal skelet
β
Dreyer, Sandra D.; Zhou, Guang; Baldini, Antonio; Winterpacht, Andreas; Zabel, B
π
Article
π
1998
π
Nature Publishing Group
π
English
β 480 KB
Limb and kidney defects in Lmx1b mutant
β
Chen, Haixu; Lun, Yi; Ovchinnikov, Dmitry; Kokubo, Hiroki; Oberg, Kerby C.; Pepi
π
Article
π
1998
π
Nature Publishing Group
π
English
β 821 KB
A neurological phenotype in nail patella
β
Dunston, Jennifer A; Reimschisel, Tyler; Ding, Yu-Qiang; Sweeney, Elizabeth; Joh
π
Article
π
2004
π
Nature Publishing Group
π
English
β 154 KB
Genotypeβphenotype studies in nail-patel
β
Bongers, Ernie M H F; Huysmans, Frans T; Levtchenko, Elena; de Rooy, Jacky W; Bl
π
Article
π
2005
π
Nature Publishing Group
π
English
β 256 KB