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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Bibliografische gegevens
Gepubliceerd in:Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2016
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Original Investigation
Online toegang: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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