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pro vyhledávání: '"Giovana R. Weber Hoss"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background Biallelic pathogenic variants in CBS gene cause the most common form of homocystinuria, the classical homocystinuria (HCU). The worldwide prevalence of HCU is estimated to be 0.82:100,000 [95% CI, 0.39–1.73:100,000] according to
Externí odkaz:
https://doaj.org/article/9e85f8e0ed744624bc24710b636cca16