Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract-Reference-Cited by-同舟云学术

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract

Published:2016-01 Issue:1 Volume:123 Page:217-220
ISSN:0161-6420
Container-title:Ophthalmology
language:en
Short-container-title:Ophthalmology

Author:

Gillespie Rachel L.,Urquhart Jill,Anderson Beverley,Williams Simon,Waller Sarah,Ashworth Jane,Biswas Susmito,Jones Simon,Stewart Fiona,Lloyd I. Christopher,Clayton-Smith Jill,Black Graeme C.M.

Publisher

Elsevier BV

Subject

Ophthalmology

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3. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene;Ebberink;J Med Genet,2012

4. Lathosterolosis: a disorder of cholesterol biosynthesis resembling Smith-Lemli-Opitz syndrome;Ho;JIMD Rep,2014

5. Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome;Flatt;Blood,2011

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