Associated Papers
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH et al.
Human Mutation, 2019
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen.
Lu Y et al.
Intractable & Rare Diseases Research, 2019
The Ehlers-Danlos syndromes, rare types.
Brady AF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Clinical utility gene card for: osteogenesis imperfecta.
van Dijk FS et al.
European Journal of Human Genetics : Ejhg, 2013
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
Malfait F et al.
Journal of Medical Genetics, 2006
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
Schwarze U et al.
American Journal of Human Genetics, 2004
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