Novel deletion mutation in a Chinese family with X-linked alport syndrome

scientific article published on 01 September 2018

Novel deletion mutation in a Chinese family with X-linked alport syndrome is …
instance of (P31):
scholarly articleQ13442814

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P932PMC publication ID6962970
P698PubMed publication ID31949866

P2093author name stringYing Wang
Xiaoyan Li
Zhuwen Yi
Yongzhen Li
Yanran Wang
Xiaochuan Wu
Xiqiang Dang
Qingnan He
Lanjun Shuai
P2860cites workDNA variant databases improve test accuracy and phenotype prediction in Alport syndromeQ38110459
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RAAS inhibition and the course of Alport syndromeQ38781843
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X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.Q43457773
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counsellingQ44053821
Symmetrical reduced retinal thickness in a patient with Alport syndromeQ45173920
Alport syndrome: impact of digenic inheritance in patients management.Q52809939
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndromeQ78526734
The value of clinical criteria in identifying patients with X-linked Alport syndromeQ24595912
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeQ26748817
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" studyQ28205352
Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failureQ33571328
Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?Q33642689
Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancyQ34029815
Renal pathology and ultrastructural findings in Alport's syndromeQ34097243
Women and Alport syndromeQ35571750
Advances in Alport syndrome diagnosis using next-generation sequencingQ35603690
Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruptionQ35642498
Glomerular basement membrane and related glomerular diseaseQ36336238
Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.Q36810465
Familial hematuriaQ36958957
Inherited diseases of the glomerular basement membraneQ37038419
Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosisQ37386211
The renal lesions of Alport syndromeQ37496342
Basement membranes and human disease.Q37598031
Alport syndrome--insights from basic and clinical researchQ38061008
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.Q38076686
P433issue9
P921main subjectAlport syndromeQ1331116
X-linked Alport syndromeQ27677597
P304page(s)4657-4665
P577publication date2018-09-01
P1433published inInternational Journal of Clinical and Experimental PathologyQ6051341
P1476titleNovel deletion mutation in a Chinese family with X-linked alport syndrome
P478volume11

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