Kuribayashi, Isao <br/><br/>
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.  [electronic resource] 

 -  Hormone research  2005 
 - 284-93 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0301-0163 
<br/><br/><label>Standard No.: </label>10.1159/000087074  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Hyperplasia, Congenital--enzymology<br/>Alleles<br/>Amino Acid Sequence<br/>Animals<br/>Base Sequence<br/>COS Cells<br/>Child, Preschool<br/>Chlorocebus aethiops<br/>Cytochrome P-450 CYP11B2--genetics<br/>Heterozygote<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Recombinant Fusion Proteins--genetics<br/>Sequence Alignment<br/>Steroid 11-beta-Hydroxylase--biosynthesis<br/>Zona Fasciculata--enzymology