Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

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Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy

Published:2018-11-20 Issue:5 Volume:471 Page:781-793
ISSN:0031-6768
Container-title:Pflügers Archiv - European Journal of Physiology
language:en
Short-container-title:Pflugers Arch - Eur J Physiol

Author:

Glazier Amelia A.,Thompson Andrea,Day Sharlene M.

Funder

National Heart, Lung, and Blood Institute

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Clinical Biochemistry,Physiology

Link

http://link.springer.com/content/pdf/10.1007/s00424-018-2226-9.pdf

Reference87 articles.

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2. Gaur U, Li K, Mei S, Liu G (2013) Research progress in allele-specific expression and its regulatory mechanisms. J Appl Genet 54:271–283. https://doi.org/10.1007/s13353-013-0148-y

3. Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, Consortium GT, Geuvadis C, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG (2015) Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science 348:666–669. https://doi.org/10.1126/science.1261877

4. Deutschbauer AM, Jaramillo DF, Proctor M, Kumm J, Hillenmeyer ME, Davis RW, Nislow C, Giaever G (2005) Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast. Genetics 169:1915–1925. https://doi.org/10.1534/genetics.104.036871

5. MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG, Genomes Project C, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335:823–828. https://doi.org/10.1126/science.1215040

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