Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
about
In vivo expression of putative LMX1B targets in nail-patella syndrome kidneysThree-dimensional electron microscopy reveals the evolution of glomerular barrier injury.Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization.Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconusAlport syndrome: abnormalities of type IV collagen genes and proteins.Collagens and collagen-related diseases.Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney diseaseImproving mutation screening in familial hematuric nephropathies through next generation sequencing.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 ageingCOL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.Advances in Alport syndrome diagnosis using next-generation sequencingGlomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneysA human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.Familial hematuriaCOL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.Alport syndrome: facts and opinions.Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.Haematuria in asymptomatic individuals.Natural history of genetically proven autosomal recessive Alport syndrome.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
P2860
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P2860
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Determination of the genomic s ...... mal recessive Alport syndrome.
@ast
Determination of the genomic s ...... mal recessive Alport syndrome.
@en
Determination of the genomic s ...... mal recessive Alport syndrome.
@nl
type
label
Determination of the genomic s ...... mal recessive Alport syndrome.
@ast
Determination of the genomic s ...... mal recessive Alport syndrome.
@en
Determination of the genomic s ...... mal recessive Alport syndrome.
@nl
prefLabel
Determination of the genomic s ...... mal recessive Alport syndrome.
@ast
Determination of the genomic s ...... mal recessive Alport syndrome.
@en
Determination of the genomic s ...... mal recessive Alport syndrome.
@nl
P2093
P2860
P356
P1476
Determination of the genomic s ...... mal recessive Alport syndrome.
@en
P2093
Antignac C
Cohen-Solal L
Forestier L
Grünfeld JP
Palcoux JB
P2860
P304
P356
10.1086/302106
P407
P577
1998-11-01T00:00:00Z