Ontology highlight
ABSTRACT:
SUBMITTER: Sun S
PROVIDER: S-EPMC6993387 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Sun Song S Weile Jochen J Verby Marta M Wu Yingzhou Y Wang Yang Y Cote Atina G AG Fotiadou Iosifina I Kitaygorodsky Julia J Vidal Marc M Rine Jasper J Ješina Pavel P Kožich Viktor V Roth Frederick P FP
Genome medicine 20200130 1
<h4>Background</h4>For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta-synthase (CBS) gene, most of which are rare. With early detection, existing therapies are highly effective.<h4>Methods</h4>Damaging CBS variants can be detected based on their failure to restore growth in yeast cells lacking the yeast orthol ...[more]