A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

Abstract Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese...

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Hauptverfasser:	Yiming Lin, Zhenzhu Zheng, Wenjia Sun, Qingliu Fu
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2018-01-01
Schriftenreihe:	BMC Medical Genetics
Schlagworte:	Non-ketotic hyperglycinemia In silico GLDC gene Multiplex ligation-dependent probe amplification
Online-Zugang:	http://link.springer.com/article/10.1186/s12881-017-0517-1
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