✦ LIBER ✦

Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17α-hydroxylase/17,20-lyase deficiency

✍ Scribed by Jie Qiao; Xia Chen; Chun-Lin Zuo; Yan-Yun Gu; Bing-Li Liu; Jun Liang; Ying-Li Lu; Jin-Feng Tang; Yi-Xin Wu; Ming-Dao Chen; Jia-Lun Chen; Wan-Ling Wu; Huai-Dong Song

Book ID: 108704476
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 379 KB
Volume: 72
Category: Article
ISSN: 0300-0664
DOI: 10.1111/j.1365-2265.2009.03607.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a common molecular bas

Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families

✍ Keiko Kagimoto; Michael R. Waterman; Masaaki Kagimoto; P. Ferreira; Evan R. Simp 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 197 KB

Molecular basis of apparent isolated 17,

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency

✍ Yanase, Toshihiko; Waterman, Michael R.; Zachmann, Milo; Winter, J.S.D.; Simpson 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 583 KB

Induction of endometrial cycles and ovul

Induction of endometrial cycles and ovulation in a woman with combined 17α-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the P45017α gene

✍ Sachiko Matsuzaki; Toshihiko Yanase; Takashi Murakami; Shigeki Uehara; Hajime Na 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 139 KB

Cyclic AMP regulates expression of the r

Cyclic AMP regulates expression of the rat gene for steroid 17α-hydroxylase / C17–20 lyase P−450 (CYP17) in rat Leydig cells

✍ Timothy F. Nason; Xu-Guang Han; Peter F. Hall 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 863 KB

A complex heterozygous mutation of His37

A complex heterozygous mutation of His373Leu and Asp487–Ser488–Phe489 deletion in human cytochrome P450c17 causes 17α-hydroxylase/17,20-lyase deficiency in three Chinese sisters

✍ Jie Qiao; Ren-Ming Hu; Yong-De Peng; Huai-Dong Song; Yi-Wen Peng; Guo-Feng Gao; 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 377 KB