Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses

Molecular Genetics and Metabolism

Volumn 100, Issue 4, 2010, Pages 357-364

  Nguyen, Huy Hoang ^a   Hannemann, Frank ^a   Hartmann, Michaela F ^b   Malunowicz, Ewa M ^c   Wudy, Stefan A ^b   Bernhardt, Rita ^a  

^a SAARLAND UNIVERSITY   (Germany)

^b JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Aldosterone synthase deficiency (ASD); CYP11B2; Steroid hydroxylation

Indexed keywords

ALDOSTERONE; ALDOSTERONE SYNTHASE; DEOXYCORTICOSTERONE; FLUDROCORTISONE; GENE PRODUCT; GENOMIC DNA; HORMONE; STEROID;

ALDOSTERONE SYNTHASE DEFICIENCY TYPE 1; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ENZYME DEFICIENCY; ENZYME INACTIVATION; EXON; FEMALE; GENE CONVERSION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; HYDROGEN BOND; INDEL MUTATION; INFANT; MALE; MASS FRAGMENTOGRAPHY; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SALT WASTING; SEQUENCE ANALYSIS; ADRENAL DISEASE; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; DEFICIENCY; ENZYME ASSAY; ENZYMOLOGY; GENETICS; METABOLISM; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PREGNANCY; PRESCHOOL CHILD; SEQUENCE ALIGNMENT; URINE; WESTERN BLOTTING;

ADRENAL GLAND DISEASES; ALDOSTERONE SYNTHASE; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; ENZYME ASSAYS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HORMONES; HUMANS; HYDROGEN BONDING; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; SEQUENCE ALIGNMENT; STEROIDS; CYTOCHROME P-450 CYP11B2;

EID: 77954657876     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.04.016     Document Type: Article

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