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Article

Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the Kniest form of spondyloepiphyseal dysplasia.

Human mutation - 1 Jan 1998

Yang W, Cole W G

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Share to Alternative Splicing
Share to Collagen
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Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Lymphocytes

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Share to Reverse Transcriptase Polymerase Chain Reaction

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Source

Identifiers

PMID: 9452022
DOI: 10.1002/humu.1380110101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the Kniest form of spondyloepiphyseal dysplasia.PMID 9452022Read ↗

Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type-II collagen in the Kniest form of spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.Semantic proximity Read ↗

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Small deletions in the type II collagen triple helix produce Kniest dysplasiaSemantic proximity Read ↗

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.Semantic proximity Read ↗

Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen moleculeSemantic proximity Read ↗

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.Semantic proximity Read ↗

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.Semantic proximity Read ↗

Patterns of expression of the six alternatively spliced exons affecting the structures of the COL1 and NC2 domains of the alpha 1(XIII) collagen chain in human tissues and cell lines.Semantic proximity Read ↗

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