Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Congenital Chloride Diarrhea[original query] |
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Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. Journal of pediatric gastroenterology and nutrition 2017 (1): 26-30. Amato Felice, Cardillo Giuseppe, Liguori Renato, Scorza Manuela, Comegna Marika, Elce Ausilia, Giordano Sonia, Lucaccioni Laura, Lugli Licia, Cardile Sabrina, Romano Claudio, Pezzella Vincenza, Castaldo Giuseppe, Berni Canani Rober |
A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. Scientific reports 2017 10 7 (1): 14208. Wedenoja Satu, Khamaysi Ahlam, Shimshilashvili Liana, Anbtawe-Jomaa Shireen, Elomaa Outi, Toppari Jorma, Höglund Pia, Aittomäki Kristiina, Holmberg Christer, Hovatta Outi, Tapanainen Juha S, Ohana Ehud, Kere Ju |
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan. The Journal of pediatrics 2019 9 214 151-157.e6. Konishi Ken-Ichiro, Mizuochi Tatsuki, Yanagi Tadahiro, Watanabe Yoriko, Ohkubo Kazuhiro, Ohga Shouichi, Maruyama Hidehiko, Takeuchi Ichiro, Sekine Yuji, Masuda Kei, Kikuchi Nobuyuki, Yotsumoto Yuka, Ohtsuka Yasufumi, Tanaka Hidenori, Kudo Takahiro, Noguchi Atsuko, Fuwa Kazumasa, Mushiake Sotaro, Ida Shinobu, Fujishiro Jun, Yamashita Yushiro, Taguchi Tomoaki, Yamamoto K |
Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts. Nephron 2023 3 1-18. Vaisbich Maria Helena, Messa Ana Carola Hebbia Lobo, Rangel-Santos Andréia Cristiane, Ferreira Juliana Caires de Oliveira Achili, Nunes Fernanda Andrade Macaferri da Fonseca, Watanabe Andre |
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