Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Abdelkarim Ayedi"'
Autor:
Najla Soyah, Abdelbasset Amara, Faïza Zbidi, Ilhem Charfeddine, Abdelkarim Ayedi, Ahlem M'sakni, Saoussen Abroug, Jihene Bouguila, Hechmi Ben Hamouda, Adnène Mlika, Khalid Hlel, Taheni Ben Lazreg, Ali Saad, N. Zouari, Anouar Chaieb, Lamia Boughamoura, Moez Gribaa
Publikováno v:
Hemoglobin. 39:251-255
The β hemoglobinopathies [β-thalassemia (β-thal) and structural hemoglobin (Hb) variants such as Hb S (HBB: c.20A T) and Hb E (HBB: c.79G A)] are among the most common inherited diseases worldwide. In Tunisia, due to the high prevalence of consang
Autor:
Samir M'Rabet, Najoua Kahloul, Hassen Sboui, Sihem Trimech, N. Zouari, Felix G. Riepe, Mohamed Tahar Sfar, Fathi Amri, Saloua Makni, Abdelkarim Ayedi, Ali Saad, Ilhem Charfeddine, Eric Clauser, Paul-Martin Holterhus, Slaheddine Chouchane, Moez Gribaa, Hechmi Ben Hamouda
Publikováno v:
Gene. 507(1)
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 gene