Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene

Molecular Genetics and Metabolism

Volumn 93, Issue 4, 2008, Pages 458-467

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

^a SAARLAND UNIVERSITY   (Germany)

^b Center of Child and Adolescent Medicine   (Germany)

Author keywords

Aldosterone synthase deficiency (CMO I); Cell culture; CYP11B2; GC MS; Steroid hydroxylation

Indexed keywords

ADRENODOXIN; COMPLEMENTARY DNA; CORTICOSTERONE; CYTOCHROME P450; DEOXYCORTICOSTERONE; LEUCINE; PHENYLALANINE;

ALDOSTERONE SYNTHASE DEFICIENCY; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL CULTURE; CELL STRAIN HCT116; COMPUTER MODEL; CONTROLLED STUDY; CORRELATION ANALYSIS; CYP11B2 GENE; ELECTROLYTE DISTURBANCE; ENZYME ACTIVITY; EXON; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HUMAN CELL; HYPERKALEMIA; HYPOALDOSTERONISM; HYPONATREMIA; INFANT; L451F GENE; MALE; MASS FRAGMENTOGRAPHY; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; URINALYSIS;

ALDOSTERONE SYNTHASE; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; STEROIDS;

EID: 40849136118     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.11.009     Document Type: Article

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