A novelCOL4A1frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen-Reference-Cited by-同舟云学术

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A novelCOL4A1frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

Published:2016-04-08 Issue:11 Volume:31 Page:1908-1914
ISSN:0931-0509
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:Nephrol. Dial. Transplant.

Author:

Gale Daniel P.,Oygar D. Deren,Lin Fujun,Oygar P. Derin,Khan Nadia,Connor Thomas M.F.,Lapsley Marta,Maxwell Patrick H.,Neild Guy H.

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/31/11/1908/17109601/gfw051.pdf

Reference28 articles.

1. Persistent Asymptomatic Isolated Microscopic Hematuria in Israeli Adolescents and Young Adults and Risk for End-Stage Renal Disease

2. How benign is hematuria? Using genetics to predict prognosis

3. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

4. Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

5. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome11See Editorial by Monnens, p. 799

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1. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-07-17

2. Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review;Neurology International;2024-02-01

3. A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives;Biomedicines;2023-10-12

4. Genotypic Analysis of COL4A1 Gene in Diabetic Nephropathy and Type 2 Diabetes Mellitus Patients: A Comparative Genetic Study;DNA and Cell Biology;2023-09-01

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