A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions-Reference-Cited by-同舟云学术

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

Published:2011-06-29 Issue:1 Volume:20 Page:58-63
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Selmer Kaja K,Gilfillan Gregor D,Strømme Petter,Lyle Robert,Hughes Timothy,Hjorthaug Hanne S,Brandal Kristin,Nakken Sigve,Misceo Doriana,Egeland Thore,Munthe Ludvig A,Braekken Sigrun K,Undlien Dag E

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011126.pdf

Reference23 articles.

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3. Sobreira NL, Cirulli ET, Avramopoulos D et al: Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 2010; 6: e1000991.

4. Choi M, Scholl UI, Ji W et al: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 2009; 106: 19096–19101.

5. Lupski JR, Reid JG, Gonzaga-Jauregui C et al: Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010; 362: 1181–1191.

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