A novel splice site variant in CYP11A1...

Molecular Genetics & Genomic Medicine 2017 / 11 Vol. 5; Iss. 6

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Lara-Velazquez, Montserrat, Perdomo-Pantoja, Alexander, Blackburn, Patrick R., Gass, Jennifer M., Caulfield, Thomas R., Atwal, Paldeep S.
How much do you like this book?
What’s the quality of the file?
Download the book for quality assessment
What’s the quality of the downloaded files?
Volume:
5
Language:
english
Journal:
Molecular Genetics & Genomic Medicine
DOI:
10.1002/mgg3.322
Date:
November, 2017
File:
PDF, 821 KB
english, 2017
Conversion to is in progress
Conversion to is failed