TY  - GEN
AU  - Kuribayashi,Isao
AU  - Nomoto,Satoshi
AU  - Massa,Guy
AU  - Oostdijk,Wilma
AU  - Wit,Jan M
AU  - Wolffenbuttel,Bruce H R
AU  - Shizuta,Yutaka
AU  - Honke,Koichi
TI  - Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele
SN  - 0301-0163
PY  - 2005///1011
KW  - Adrenal Hyperplasia, Congenital
KW  - enzymology
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Sequence
KW  - COS Cells
KW  - Child, Preschool
KW  - Chlorocebus aethiops
KW  - Cytochrome P-450 CYP11B2
KW  - genetics
KW  - Heterozygote
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Recombinant Fusion Proteins
KW  - Sequence Alignment
KW  - Steroid 11-beta-Hydroxylase
KW  - biosynthesis
KW  - Zona Fasciculata
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1159/000087074
ER  -