日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

对一个携带显性肾素基因突变的家族进行临床和分子特征分析,并评估其对氟氢可的松治疗的反应。

Bleyer, A J; Zivná, M; Hulková, H; Hodanová, K; Vyletal, P; Sikora, J; Zivný, J; Sovová, J; Hart, T C; Adams, J N; Elleder, M; Kapp, K; Haws, R; Cornell, L D; Kmoch, S; Hart, P S

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

携带最常见同型半胱氨酸尿症突变 c.833T>C 的胱硫醚β-合成酶单倍型的多样性:基因转换的可能作用

Vyletal, Petr; Sokolová, Jitka; Cooper, David N; Kraus, Jan P; Krawczak, Michael; Pepe, Guglielmina; Rickards, Olga; Koch, Hans G; Linnebank, Michael; Kluijtmans, Leo A J; Blom, Henk J; Boers, Godfried H J; Gaustadnes, Mette; Skovby, Flemming; Wilcken, Bridget; Wilcken, David E L; Andria, Generoso; Sebastio, Gianfranco; Naughten, Eileen R; Yap, Sufin; Ohura, Toshihiro; Pronicka, Ewa; Laszlo, Aranka; Kozich, Viktor