Homozygous mutation in murine retrovirus integration site 1 gene associated with a non‐syndromic form of isolated familial achalasia-Reference-Cited by-同舟云学术

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Homozygous mutation in murine retrovirus integration site 1 gene associated with a non‐syndromic form of isolated familial achalasia

Published:2020-06-22 Issue:12 Volume:32 Page:
ISSN:1350-1925
Container-title:Neurogastroenterology & Motility
language:en
Short-container-title:Neurogastroenterology & Motility

Author:

Koehler Katrin¹,Hmida Dorra²,Schlossmann Jens³,Landgraf Dana¹,Reisch Nicole⁴,Schuelke Markus⁵,Huebner Angela¹

Affiliation:

1. Medizinische Fakultät Carl Gustav Carus Children’s Hospital Technische Universität Dresden Dresden Germany

2. Department of Medical Genetics, Anatomy and Cytology Farhat Hached Hospital Sousse Tunisia

3. Department of Pharmacology and Toxicology Institute of Pharmacy University of Regensburg Regensburg Germany

4. Medizinische Klinik und Poliklinik IV Ludwig‐Maximilians‐Universität München Munich Germany

5. Department of Neuropediatrics and NeuroCure Clinical Research Center Charité‐Universitätsmedizin Berlin Berlin Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Gastroenterology,Endocrine and Autonomic Systems,Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nmo.13923

Reference36 articles.

1. An overview of achalasia and its subtypes;Patel DA;Gastroenterol Hepatol,2017

2. FAMILIAL GLUCOCORTICOID DEFICIENCY WITH ACHALASIA OF THE CARDIA AND DEFICIENT TEAR PRODUCTION

3. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

4. Proteomic analysis of the mammalian nuclear pore complex

5. Achalasia of the Cardia in Allgroveʼs (Triple A) Syndrome: Histopathologic Study of 10 Cases

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