Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect (Q55670929)

2

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U Schwarze

3

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S Mundlos

4

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J Spranger

5

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B U Zabel

Effect of 5' splice site mutations on splicing of the preceding intron

6

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language of work or name

English

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publication date

April 1993

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published in

Nature Genetics

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volume

3

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issue

4

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page(s)

323-6

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cites work

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Heritable diseases of collagen

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Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

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Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

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Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

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Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

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Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly

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Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g 1 to t substitution in a 5′-splice site causing Fabry disease

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Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

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Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.

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Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

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DNA sequencing with chain-terminating inhibitors

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Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

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