A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family
Author:
Publisher
Elsevier BV
Subject
Histology,Physiology,Endocrinology, Diabetes and Metabolism
Reference29 articles.
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3. Nail patella syndrome revisited: 50 years after linkage;McIntosh;Ann Hum Genet,2005
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5. Genetical linkage between the ABO and nail-patella loci;Renwick;Ann Hum Genet,1955
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Identification of a Novel Missense Mutation in the LMX1B Gene Associated with Nail-Patella Syndrome in a Chinese Family;2024-03-14
2. Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family;Medicine;2024-03-08
3. Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity;European Journal of Human Genetics;2015-04-22
4. A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome;International Journal of Molecular Sciences;2014-11-05
5. Mutation in connexin 32 causes charcot-marie-tooth disease in a large Chinese family;Muscle & Nerve;2010-08-20
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