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A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome
Joo Ho Ham, Seok Joon Shin, Kyu Re Joo, Sung Min Park, Hye Young Sung, Joong Seok Kim, Jin Soo Choi, Yeong Jin Choi, Ho Cheol Song, Eui Jin Choi
Korean J Intern Med. 2009;24(3):274-278.   Published online 2009 August 26    DOI: https://doi.org/10.3904/kjim.2009.24.3.274

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A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome
The Korean Journal of Internal Medicine. 2009;24(3):274   Crossref logo
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Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development
Development, Growth & Differentiation. 2009;51(3):241-250   Crossref logo
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Nail-Patella Syndrome
Atlas of Genetic Diagnosis and Counseling. 2016;1-10   Crossref logo
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Nail-Patella Syndrome
Atlas of Genetic Diagnosis and Counseling. 2017;2033-2041   Crossref logo
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Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients
Human Mutation. 2001;18(5):458-458   Crossref logo
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Spectrum of LMX1B mutations: from nail–patella syndrome to isolated nephropathy
Pediatric Nephrology. 2016;32(10):1845-1850   Crossref logo
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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
Nature Genetics. 1998;19(1):51-55   Crossref logo
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Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome
European Journal of Human Genetics. 2000;8(4):311-314   Crossref logo
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A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family
Bone. 2008;43(3):591-595   Crossref logo
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A novel LMX1B nonsense mutation in a family with nail-patella syndrome
Journal of Dermatological Science. 2008;52(1):58-60   Crossref logo
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