Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency.

1994 ◽  
Vol 78 (3) ◽  
pp. 561-567 ◽  
Author(s):  
R Sanchez ◽  
E Rhéaume ◽  
N Laflamme ◽  
R L Rosenfield ◽  
F Labrie ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Female Patient ◽  
Functional Characterization ◽  
Hydroxysteroid Dehydrogenase ◽  
The Novel ◽  
Type Ii

Functional characterization of a novel missense mutation, His147Arg, in A1 domain of FV protein causing type II deficiency

2014 ◽  
Vol 134 (1) ◽  
pp. 153-159 ◽  
Author(s):  
Hsiang-Chun Liu ◽  
Tsun-Mei Lin ◽  
Hock-Liew Eng ◽  
Ying-Ting Lin ◽  
Ming-Ching Shen
Keyword(s):  
Missense Mutation ◽  
Functional Characterization ◽  
Type Ii ◽  
A1 Domain

Functional Characterization of the Human 11β-Hydroxysteroid Dehydrogenase 1B (11β-HSD 1B) Variant†

Biochemistry ◽  
2003 ◽  
Vol 42 (14) ◽  
pp. 4108-4117 ◽  
Author(s):  
Andreas Blum ◽  
Andre Raum ◽  
Edmund Maser
Keyword(s):  
Functional Characterization ◽  
Hydroxysteroid Dehydrogenase

Functional characterization of the novel thyroid hormone transporter SLC17A4

Thyroid ◽  
2021 ◽  
Author(s):  
Stefan Groeneweg ◽  
Ferdy S. van Geest ◽  
Zhongli Chen ◽  
Stefania Farina ◽  
Ramona E.A. van Heerebeek ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Functional Characterization ◽  
The Novel

scholarly journals Immunohistochemical and Molecular Characterization of the Rat 11β-Hydroxysteroid Dehydrogenase Type II Enzyme*

Endocrinology ◽  
1997 ◽  
Vol 138 (2) ◽  
pp. 540-547 ◽  
Author(s):  
Robin E. Smith ◽  
X. Z. Li Kevin ◽  
Robert K. Andrews ◽  
Zygmunt Krozowski
Keyword(s):  
Molecular Characterization ◽  
Hydroxysteroid Dehydrogenase ◽  
Type Ii
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