Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction-Reference-Cited by-同舟云学术

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

Published:2016-01-27 Issue:8 Volume:24 Page:1211-1215
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Matera Ivana,Rusmini Marta,Guo Yiran^ORCID,Lerone Margherita,Li Jiankang,Zhang Jianguo,Di Duca Marco,Nozza Paolo,Mosconi Manuela,Prato Alessio Pini,Martucciello Giuseppe,Barabino Arrigo,Morandi Francesco,De Giorgio Roberto,Stanghellini Vincenzo,Ravazzolo Roberto,Devoto Marcella,Hakonarson Hakon,Ceccherini Isabella

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015275.pdf

Reference20 articles.

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3. Costa M, Fava M, Seri M et al: Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation. J Med Genet 2000; 37: E9.

4. Gath R, Goessling A, Keller KM et al: Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. Gut 2001; 48: 671–675.

5. Pingault V, Girard M, Bondurand N et al: SOX10 variants in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet 2002; 111: 198–206.

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