Two homozygous mutations in the 11β-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 6, 2003, Pages 2501-2507

  Carvajal, Cristian A ^a   Gonzalez, Alexis A ^a   Romero, Damian G ^c   González, Angel ^a   Mosso, Lorena M ^a   Lagos, Elizabeth T ^b   Hevia, Maria Del P ^b   Rosati, Maria P ^b   Perez Acle, Tomás O ^a   Gomez Sanchez, Celso E ^c   Montero, Joaquín A ^a   Fardella, Carlos E ^a  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b HOSPITAL SAN JUAN DE DIOS   (Chile)

^c UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ALDOSTERONE; ASPARAGINE DERIVATIVE; ASPARTIC ACID DERIVATIVE; COMPLEMENTARY DNA; CORTISONE; CYTOSINE; HYDROCORTISONE; MESSENGER RNA; MINERALOCORTICOID; MUTANT PROTEIN; NUCLEOTIDE; PROTEIN; THYMINE;

ALDOSTERONE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHO CELL; COMPUTER MODEL; ELECTRIC POTENTIAL; ENZYME ACTIVITY; ENZYME BINDING; EXON; GENE AMPLIFICATION; GENE MUTATION; GENETIC STRAIN; GENETIC TRAIT; GENETIC TRANSFECTION; HOMOZYGOSITY; HORMONE SYNTHESIS; HUMAN; HYPERTENSION; INTRON; ISOTOPE LABELING; MALE; MOLECULAR GENETICS; MUTAGENESIS; MUTANT; PLASMA RENIN ACTIVITY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; UNINDEXED SEQUENCE; WESTERN BLOTTING; WILD TYPE;

CRICETINAE; CRICETULUS GRISEUS;

EID: 0037630348     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021909     Document Type: Article

References (37)

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