Open AccessClinical and Molecular Characteristics of Russian Patients with Homocystinuria due to Cystathionine Beta-Synthase Deficiency
Author(s) -
А. N. Semyachkina,
Elena Voskoboeva,
Maria Yablonskya,
Е. А. Николаева
Publication year - 2018
Publication title -
journal of neurology and neurophysiology
Language(s) - English
Resource type - Journals
ISSN - 2155-9562
DOI - 10.4172/2155-9562.1000458
Subject(s) - homocystinuria , missense mutation , cystathionine beta synthase , nonsense mutation , genetics , mutation , compound heterozygosity , medicine , nonsense , phenotype , bioinformatics , gene , biology , amino acid , methionine