Výsledky vyhledávání - "S. Erfan Hosseini-Asl"

Akademický článek

Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis

Autor: S. Erfan Hosseini-Asl, Jafar Khalafi, Effat Seyedhashemi, Reza Farajollahi, Homa Ahkavan, S. Saied Hosseini-Asl

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-5 (2024)

Abstract Background Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disease that causes changes in the electrolyte transport system, leading to high absorption of sodium and water. Disease-causing variants of the CFTR gene a

Externí odkaz: https://doaj.org/article/351d9799c73d4c7b8340b3794ec6e712

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Akademický článek

Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis.

Autor: Hosseini-Asl, S. Erfan¹ (AUTHOR), Khalafi, Jafar² (AUTHOR), Seyedhashemi, Effat³ (AUTHOR), Farajollahi, Reza⁴ (AUTHOR), Ahkavan, Homa⁵ (AUTHOR), Hosseini-Asl, S. Saied^3,5 (AUTHOR) saied.hosseiniasl@arums.ac.ir

Publikováno v: Egyptian Journal of Medical Human Genetics. 10/7/2024, Vol. 25 Issue 1, p1-5. 5p.

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Periodical

New Research on Cystic Fibrosis from Ardabil University of Medical Sciences Summarized (Reporting three rare pathogenic variants at the CFTR gene in two unrelated Iranian Azeri children with cystic fibrosis).

Publikováno v: Gastroenterology Week; 10/28/2024, p476-476, 1p

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