Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Glycine cleavage system (GCS) catalyzes the degradation of glycine and disruption of its components encoded by GLDC, AMT and GCSH are the only known causes of glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH). In this report, we describe a consanguineous family with one child w...

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Vydáno v:Hum Genet
Hlavní autoři: Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2016
Témata:
Original Investigation
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5052303/
https://ncbi.nlm.nih.gov/pubmed/27481395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1719-x
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