Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

Hypotonia–cystinuria syndrome (HCS) and 2p21 deletion syndrome are two recessive contiguous gene deletion syndromes associated with cystinuria type I. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost. Molecular ana...

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Detaylı Bibliyografya
Asıl Yazarlar: Chabrol, B, Martens, K, Meulemans, S, Cano, A, Jaeken, J, Matthijs, G, Creemers, J W M
Materyal Türü: Metin
Dil:İngilizce
Baskı/Yayın Bilgisi: BMJ Publishing Group 2009
Konular:
Article
Online Erişim:https://pmc.ncbi.nlm.nih.gov/articles/PMC3027732/
https://pubmed.ncbi.nlm.nih.gov/21686663
http://dx.doi.org/10.1136/bcr.08.2008.0719
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC3027732/
https://pubmed.ncbi.nlm.nih.gov/21686663
http://dx.doi.org/10.1136/bcr.08.2008.0719

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