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1.
[Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(11): 1130-1135, 2016 Nov.
Artículo
en Zh
| MEDLINE | ID: mdl-27817779
2.
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
Mol Med Rep
; 14(6): 5189-5194, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27779681
3.
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Sci Rep
; 6: 29732, 2016 07 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27405544
4.
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
PLoS One
; 9(2): e89267, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24586645
5.
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.
Int J Mol Med
; 34(5): 1241-8, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25216257
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