about
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconusAlport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysisExon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.Outcomes of male patients with Alport syndrome undergoing renal replacement therapy.Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identificatiGlomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneysX-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsPodocyte p53 Limits the Severity of Experimental Alport Syndrome.Genotype-phenotype correlation in X-linked Alport syndromeAntibody-negative Goodpasture's diseaseALPORTS NEPHRITIS: A Report of Two CasesQuantitative trait loci influence renal disease progression in a mouse model of Alport syndrome.Differential expression of alpha1 (IV) and alpha5 (IV) collagen chains in basal-cell carcinoma.Alport syndrome with diffuse leiomyomatosis. When and when not?Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.Genetic background influences cardiac phenotype in murine chronic kidney disease.Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The clinical spectrum of type IV collagen mutations
@ast
The clinical spectrum of type IV collagen mutations
@en
The clinical spectrum of type IV collagen mutations
@nl
type
label
The clinical spectrum of type IV collagen mutations
@ast
The clinical spectrum of type IV collagen mutations
@en
The clinical spectrum of type IV collagen mutations
@nl
prefLabel
The clinical spectrum of type IV collagen mutations
@ast
The clinical spectrum of type IV collagen mutations
@en
The clinical spectrum of type IV collagen mutations
@nl
P2093
P3181
P1433
P1476
The clinical spectrum of type IV collagen mutations
@en
P2093
C H Schröder
H H Lemmink
H J Smeets
L A Monnens
P304
P3181
P356
10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.3.CO;2-H
P407
P577
1997-01-01T00:00:00Z