TY  - GEN
AU  - Polat,Seher
AU  - Kulle,Alexandra
AU  - Karaca,Züleyha
AU  - Akkurt,Ilker
AU  - Kurtoglu,Selim
AU  - Kelestimur,Fahrettin
AU  - Grötzinger,Joachim
AU  - Holterhus,Paul-Martin
AU  - Riepe,Felix G
TI  - Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency
SN  - 1479-683X
PY  - 2014///0610
KW  - Adrenal Hyperplasia, Congenital
KW  - genetics
KW  - Adult
KW  - Amino Acid Substitution
KW  - Child, Preschool
KW  - Computational Biology
KW  - Expert Systems
KW  - Family Health
KW  - Female
KW  - Frameshift Mutation
KW  - HEK293 Cells
KW  - Humans
KW  - Infant, Newborn
KW  - Kinetics
KW  - Male
KW  - Models, Molecular
KW  - Mutant Proteins
KW  - chemistry
KW  - Mutation
KW  - Protein Conformation
KW  - Recombinant Proteins
KW  - Severity of Illness Index
KW  - Steroid 11-beta-Hydroxylase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1530/EJE-13-0737
ER  -