G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV
about
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IIIdentification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrixDifferential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissuesGenetic causes of aortic aneurysms. Unlearning at least part of what the textbooks sayExon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in JapanA T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV.Diverse growth hormone receptor gene mutations in Laron syndrome.Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.Temperature-dependent splicing of beta-globin pre-mRNA.Temperature-sensitive splicing of mitfa by an intron mutation in zebrafish.Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.
P2860
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P2860
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV
description
1991 nî lūn-bûn
@nan
1991 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մարտին 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
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@ast
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en-gb
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@nl
type
label
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@ast
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en-gb
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@nl
prefLabel
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@ast
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en-gb
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@nl
P2093
P921
P1476
G to T transversion at positio ...... Ehlers-Danlos syndrome type IV
@en
P2093
P304
P407
P577
1991-03-15T00:00:00Z