Associated Papers
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.
Wang Y et al.
The British Journal of Ophthalmology, 2023
36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf
Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.
Burr R et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
Schön S et al.
Journal of Medical Genetics, 2006
Mutational and functional analyses of xylosyltransferases and their implication in osteoarthritis.
Schön S et al.
Osteoarthritis and Cartilage, 2006
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