A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
about
Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.Genomic medicine for kidney disease.Hereditary Podocytopathies in Adults: The Next Generation.Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
P2860
Q37563312-2F817F4A-6EA3-4672-AA4B-C7E6DE2043A8Q38622890-37EECB41-8FDA-4767-81C3-10FAF5B5E3AAQ38885083-49C8D265-6BFB-474D-9240-99A074A0CE42Q38906319-A9A049EB-12B4-4B33-A7AB-0E343AEDCB77Q42351608-7584742F-89AB-4AE5-8B44-AB1D1B8D1E01Q47200436-2F7519EB-A703-4667-BFFC-F8DBC77E93FBQ47861655-3D569C72-2E14-47FB-8AB5-D98B381A89ECQ50549924-3077F0C6-076A-48A8-B34A-558164378C86
P2860
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
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2014年论文
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name
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
@en
type
label
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
@en
prefLabel
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
@en
P2093
P2860
P50
P356
P1476
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
@en
P2093
Ann Marie Hynes
David T Thwaites
Iain Moore
John A Sayer
Mauro Santibanez-Koref
Mohamed Al-Hamed
Noel Edwards
Shalabh Srivastava
Shreya Raman
P2860
P304
P356
10.1093/CKJ/SFU129
P577
2014-12-05T00:00:00Z