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Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization

We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heterozygotes for the mutations detected. The most freq...

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Detalles Bibliográficos
Autores principales:	Voskoboeva, Elena, Semyachkina, Alla, Yablonskaya, Maria, Nikolaeva, Ekaterina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2017
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758839/ https://www.ncbi.nlm.nih.gov/pubmed/29326875 http://dx.doi.org/10.1016/j.ymgmr.2017.11.001

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