Analysis of the Qatari R336C Cystathionine -Synthase Protein in Mice

Classical homocystinuria is a recessive inborn error of metabolism caused by mutations in the cystathionine beta-synthase (CBS) gene. The highest incidence of CBS deficiency in the world is found in the country of Qatar due to the combination of high rates of consanguinity and the presence of a foun...

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Foilsithe in:J Inherit Metab Dis
Main Authors: Gupta, Sapna, Gallego-Villar, Lorena, Wang, Liqun, Lee, Hyung-Ok, Nasrallah, Gheyath, Al-Dewik, Nader, Häberle, Johannes, Thöny, Beat, Blom, Henk J, Ben-Omran, Tawfeg, Kruger, Warren D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2019
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336392/
https://ncbi.nlm.nih.gov/pubmed/31240737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12140
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