Journal of Human Genetics and Genomics

Published by: Kowsar

A Novel Mutation in TMPRSS15 Gene Causes a Severe Form of Congenital Enterokinase Deficiency

Mohammad Taghi Akbari 1 , 2 and Mojgan Ataei-Kachui 2 , *
Authors Information
1 Medical Genetics Department, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
2 Tehran Medical Genetics Laboratory, Tehran, Iran
Article information
  • Journal of Human Genetics and Genomics: July 2018, 2 (1); e81232
  • Published Online: July 4, 2017
  • Article Type: Research Article
  • Received: May 20, 2017
  • Revised: June 19, 2017
  • Accepted: July 20, 2017
  • DOI: 10.5812/jhgg.81232

How to Cite: Akbari M T, Ataei-Kachui M. A Novel Mutation in TMPRSS15 Gene Causes a Severe Form of Congenital Enterokinase Deficiency, J Human Gen Genom. 2018 ; 2(1):e81232. doi: 10.5812/jhgg.81232.

Copyright © 2017, Journal of Human Genetics and Genomics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited
1. Background
2. Methods
3. Results
4. Discussion
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  • 2. Holzinger A, Maier EM, Buck C, Mayerhofer PU, Kappler M, Haworth JC, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002;70(1):20-5. doi: 10.1086/338456. [PubMed: 11719902]. [PubMed Central: PMC384888].
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  • 6. Zheng XL, Kitamoto Y, Sadler JE. Enteropeptidase, a type II transmembrane serine protease. Front Biosci (Elite Ed). 2009;1:242-9. [PubMed: 19482641].
  • 7. Hadorn B, Tarlow MJ, Lloyd JK, Wolff OH. Intestinal Enterokinase Deficiency. The Lancet. 1969;293(7599):812-3. doi: 10.1016/s0140-6736(69)92071-6.
  • 8. Green JR, Bender SW, Posselt H-G, Lentze MJ. Primary Intestinal Enteropeptidase Deficiency. J Pediatr Gastroenterol Nutr. 1984;3(4):630-3. doi: 10.1097/00005176-198409000-00026.
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