The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
about
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseUse of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient miceRegulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis.Treatable Genetic Metabolic Epilepsies.A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.The impact of common genetic variants in the mitochondrial glycine cleavage system on relevant metabolites.
P2860
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P2860
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@en
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@nl
type
label
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@en
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@nl
prefLabel
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@en
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@nl
P2093
P2860
P50
P356
P1433
P1476
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
@en
P2093
Celia Pérez-Cerdá
Christine Vianey-Saban
Cécile Acquaviva
Geralyn Creadon-Swindell
Gunter H Scharer
Johan L K Van Hove
Kathryn Kronquist
Magdalena Ugarte
Pilar Rodríguez-Pombo
Tim Hutchin
P2860
P2888
P304
P356
10.1038/GIM.2016.74
P407
P50
P577
2016-06-30T00:00:00Z
P6179
1025709220