The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome

Alzahrani, F., Alkeraye, S., & Alkuraya, F. S. (2018, April 1). The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome. Clinical Genetics. Blackwell Publishing Ltd. https://doi.org/10.1111/cge.13131