Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
about
Power(2): the power of yeast genetics applied to the powerhouse of the cellClinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.Screening of SLC25A13 mutation in the Thai population.Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.
P2860
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P2860
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Prediction of the functional e ...... siae model of AGC2 deficiency.
@en
Prediction of the functional e ...... siae model of AGC2 deficiency.
@nl
type
label
Prediction of the functional e ...... siae model of AGC2 deficiency.
@en
Prediction of the functional e ...... siae model of AGC2 deficiency.
@nl
prefLabel
Prediction of the functional e ...... siae model of AGC2 deficiency.
@en
Prediction of the functional e ...... siae model of AGC2 deficiency.
@nl
P2093
P2860
P1476
Prediction of the functional e ...... siae model of AGC2 deficiency.
@en
P2093
Duangrurdee Wattanasirichaigoon
Parith Wongkittichote
Sumalee Tungpradabkul
P2860
P2888
P304
P356
10.1007/S10545-012-9543-5
P577
2012-10-03T00:00:00Z