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Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndromeThe value of clinical criteria in identifying patients with X-linked Alport syndromeClinical utility gene card for: Alport syndromeX inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?Mild phenotypic manifestation of a 7p15.3p21.2 deletionAlport's syndrome.The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia.Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Outcomes of male patients with Alport syndrome undergoing renal replacement therapy.Advances in Alport syndrome diagnosis using next-generation sequencingGlomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneysX-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalitiesChallenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.Phenotypic heterogeneity in females with X-linked Alport syndrome.COL4A6 is dispensable for autosomal recessive Alport syndrome.An electrophysiological study on children and young adults with Alport's syndrome.COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.Cloning of Alport syndrome gene.Alport syndrome: a rare cause of uraemia.Alport syndrome: facts and opinions.Alport syndrome--insights from basic and clinical research.DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Familial haematuria: when to consider genetic testing.The gene corresponding to the putative Goodpasture antigen is present in Alport's syndrome.Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China.Genotype-phenotype correlation in X-linked Alport syndromeBifunctional promoter of type IV collagen COL4A5 and COL4A6 genes regulates the expression of alpha5 and alpha6 chains in a distinct cell-specific fashionAlport Syndrome in Women and Girls.The molecular genetics of Alport syndrome: report of two workshops.Clinical utility gene card for: Alport syndrome - update 2014.Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Alport's syndrome in 78 patients: epidemiological and clinical study.Alport's syndrome: can carriers be identified by audiometry?End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases.Osteopontin deficiency ameliorates Alport pathology by preventing tubular metabolic deficits.
P2860
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P2860
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Genetics of classic Alport's syndrome.
@en
Genetics of classic Alport's syndrome.
@nl
type
label
Genetics of classic Alport's syndrome.
@en
Genetics of classic Alport's syndrome.
@nl
prefLabel
Genetics of classic Alport's syndrome.
@en
Genetics of classic Alport's syndrome.
@nl
P2093
P1433
P1476
Genetics of classic Alport's syndrome.
@en
P2093
C Chantler
F A Flinter
J S Cameron
P304
P356
10.1016/S0140-6736(88)90753-2
P407
P577
1988-10-01T00:00:00Z