A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia
Author:
Affiliation:
1. National Institutes of Health Clinical Center Bethesda MD USA
2. The Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institutes of Health Bethesda MD USA
3. PreventionGenetics Marshfield WI USA
Funder
National Institutes of Health
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1556
Reference24 articles.
1. Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA
2. Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
3. Tenascin–X deficiency is associated with Ehlers–Danlos syndrome
4. Analysis of canonical and non-canonical splice sites in mammalian genomes
5. SpliceDB: database of canonical and non-canonical mammalian splice sites
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