Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome
about
Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagenSubstitution 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 fragmentsComparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patientsSensorineural deafness inherited as a tissue specific mitochondrial disorder.X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?Alport's syndrome.CECIL: a database for storing and retrieving clinical and molecular information on patients with Alport syndrome.Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageingGenetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndromeA mutation causing Alport syndrome with tardive hearing loss is common in the western United States.Cloning of Alport syndrome gene.Molecular genetics of familial hematuric diseases.Collagens and their abnormalities in a wide spectrum of diseases.Hsp47 and other ER-resident molecular chaperones form heterocomplexes with each other and with collagen type IV chains.Comparative analysis of the noncollagenous NC1 domain of type IV collagen: identification of structural features important for assembly, function, and pathogenesis.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.
P2860
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P2860
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Single base mutation in alpha ...... e to serine in Alport syndrome
@ast
Single base mutation in alpha ...... e to serine in Alport syndrome
@en
Single base mutation in alpha ...... e to serine in Alport syndrome
@nl
type
label
Single base mutation in alpha ...... e to serine in Alport syndrome
@ast
Single base mutation in alpha ...... e to serine in Alport syndrome
@en
Single base mutation in alpha ...... e to serine in Alport syndrome
@nl
prefLabel
Single base mutation in alpha ...... e to serine in Alport syndrome
@ast
Single base mutation in alpha ...... e to serine in Alport syndrome
@en
Single base mutation in alpha ...... e to serine in Alport syndrome
@nl
P2093
P1433
P1476
Single base mutation in alpha ...... e to serine in Alport syndrome
@en
P2093
D F Barker
K Tryggvason
M C Gregory
S L Hostikka
P356
10.1016/0888-7543(91)90215-Z
P407
P577
1991-01-01T00:00:00Z