Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
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Ehlers-Danlos syndrome type IVComparative genome analysis of cortactin and HS1: the significance of the F-actin binding repeat domainHuman peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humansOsteogenesis imperfecta: translation of mutation to phenotypeUroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tardaHigh level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher diseaseA point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyriaIdentification of RNA splicing errors resulting in human ornithine transcarbamylase deficiencyFulvic acid supplementation and selenium deficiency disturb the structural integrity of mouse skeletal tissue. An animal model to study the molecular defects of Kashin-Beck diseaseIdentification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromesA base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VIIEhlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.Ehlers-Danlos syndrome has varied molecular mechanisms.Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase genePrenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.Combinatorial splicing of exon pairs by two-site binding of U1 small nuclear ribonucleoprotein particle.A donor splice mutation and a single-base deletion produce two carboxyl-terminal variants of human serum albumin.Average locus differences in mutability related to protein "class": a hypothesis.Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats.The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA.Effect of 5' splice site mutations on splicing of the preceding intron.Learning how mutations in type I collagen genes cause connective tissue disease.In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit.Quantitative comparison of initiation and mutation phenotypes in hepatocytes of the analbuminemic rat.
P2860
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P2860
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
description
1988 nî lūn-bûn
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1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
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1988年学术文章
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1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
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1988年學術文章
@yue
1988年學術文章
@zh-hant
name
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@en
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@nl
type
label
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@en
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@nl
prefLabel
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@en
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@nl
P2093
P1476
Identification of a mutation t ...... hlers-Danlos syndrome variant.
@en
P2093
Combates N
Hollister DW
Steinmann B
P304
P407
P577
1988-06-01T00:00:00Z