Associated Papers
The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.
Junkiert-Czarnecka A et al.
Postepy Dermatologii I Alergologii, 2023
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.
Schwarze U et al.
American Journal of Medical Genetics. Part A, 2019
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