Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

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http://www.wikidata.org/entity/Q24679616
Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the youngDeletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.Outcomes of male patients with Alport syndrome undergoing renal replacement therapy.Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndromeSpectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeX-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsComparative analysis of gene expression profiles in normal hip human cartilage and cartilage from patients with necrosis of the femoral headGenetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.Versican gene expression in human articular cartilage and comparison of mRNA splicing variation with aggrecan.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.
P2860

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments

Item
http://www.wikidata.org/entity/Q24679616
description
1992 nî lūn-bûn
@nan
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@ast
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@en
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@nl
type
label
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@ast
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@en
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@nl
prefLabel
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@ast
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@en
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P407
P433
P478
P577
P698
P932
P3181
P1433
P1476
Substitution of arginine for g ...... ied lymphoblast cDNA fragments
@en
P2093
P2860
P304
P31
P3181
P407
P433
P478
P577
P698
P932