Associated Papers
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse.
Li L et al.
Menopause (new York, N.y.), 2020
31663982 (PubMed )
Supplement: menop-27-223-s001.xlsx › Sheet1
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M et al.
American Journal of Human Genetics, 2012
Select a paper to view details