A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference24 articles.
1. Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1);Ala-Kokko;Biochem J,1995
2. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes;Annunen;Am J Hum Genet,1999
3. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene;Brunner;Hum Mol Genet,1994
4. Listening to silence and understanding nonsense: Exonic mutations that affect splicing;Cartegni;Nat Rev Genet,2002
5. Type XI or 1α2α3α Collagen
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1. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis;Human Molecular Genetics;2023-07-18
2. Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2;Frontiers in Genetics;2023-06-06
3. Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case report;2022-12-05
4. Dominant Stickler Syndrome;Genes;2022-06-18
5. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome;Orphanet Journal of Rare Diseases;2022-03-03
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