Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology-Reference-Cited by-同舟云学术

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

Published:2014-11 Issue:5 Volume:61 Page:1056-1063
ISSN:0168-8278
Container-title:Journal of Hepatology
language:en
Short-container-title:Journal of Hepatology

Author:

Vilarinho Sílvia,Choi Murim,Jain Dhanpat,Malhotra Ajay,Kulkarni Sanjay,Pashankar Dinesh,Phatak Uma,Patel Mohini,Bale Allen,Mane Shrikant,Lifton Richard P.,Mistry Pramod K.

Publisher

Elsevier BV

Subject

Hepatology

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4. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc Natl Acad Sci U S A,2009

5. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness;Wortmann;Nat Genet,2012

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