Analysis of gene mutations in children with cholestasis of undefined etiology.
about
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studiesIncreased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.Genetic profiling of children with advanced cholestatic liver disease.Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
P2860
Q34000592-2C05B50D-81A8-4136-BAE8-FA8C2F3618ACQ36154600-8013FA55-92D6-4534-A6E1-6F6F5619019BQ36753645-7B5E4C7E-FB42-4E24-BB74-6698723CCCA6Q39320518-2E8AA042-2C10-46C2-AA8A-103D17A10B1BQ48104693-55251B13-9FE0-4C21-9455-E23A04374D3AQ50148637-725EAC13-7B6A-4080-A7BB-BEE257217CF3Q51033041-A76E4D87-4936-46F9-A1E2-C88F4F7FE3EEQ55261532-D30ECD68-4449-4AEF-A7B5-33A5175CBA74
P2860
Analysis of gene mutations in children with cholestasis of undefined etiology.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
2010年论文
@zh
2010年论文
@zh-cn
name
Analysis of gene mutations in children with cholestasis of undefined etiology.
@en
Analysis of gene mutations in children with cholestasis of undefined etiology.
@nl
type
label
Analysis of gene mutations in children with cholestasis of undefined etiology.
@en
Analysis of gene mutations in children with cholestasis of undefined etiology.
@nl
prefLabel
Analysis of gene mutations in children with cholestasis of undefined etiology.
@en
Analysis of gene mutations in children with cholestasis of undefined etiology.
@nl
P2093
P2860
P1476
Analysis of gene mutations in children with cholestasis of undefined etiology.
@en
P2093
Alexander Miethke
Gregory Kauffmann
Jorge A Bezerra
Katie Moyer
Kejian Zhang
Reena Mourya
Ursula Matte
P2860
P304
P356
10.1097/MPG.0B013E3181DFFE8F
P407
P577
2010-10-01T00:00:00Z