De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis-Reference-Cited by-同舟云学术

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De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Published:2013-12-13 Issue:6 Volume:133 Page:737-742
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Thorson Willa,Diaz-Horta Oscar,Foster Joseph,Spiliopoulos Michail,Quintero Rubén,Farooq Amjad,Blanton Susan,Tekin Mustafa

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-013-1406-0.pdf

Reference20 articles.

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2. Campeau E, Ruhl VE, Rodier F, Smith CL, Rahmberg BL, Fuss JO, Campisi J, Yaswen P, Cooper PK, Kaufman PD (2009) A versatile viral system for expression and depletion of proteins in mammalian cells. PLoS One 4(8):e6529. doi: 10.1371/journal.pone.0006529

3. Carson M (1991) Ribbons 2 0. J Appl Crystallogr 24:958–961. doi: 10.1107/S0021889891007240

4. Ciftci AO, Cook RC, van Velzen D (1996) Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis. J Pediatr Surg 31(12):1706–1711

5. Diaz-Horta O, Duman D, Foster J 2nd, Sirmaci A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Zuchner S, Blanton S, Tekin M (2012) Whole-exome sequencing efficiently detects rare mutations in autosomal recessive non-syndromic hearing loss. PLoS One 7(11):e50628. doi: 10.1371/journal.pone.0050628

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