Apparent mineralocorticoid excess caused by a novel mutation in 11-β hydroxysteroid dehydrogenase type 2 enzyme: Its genetics and response to therapy

Endocrine Practice

Volumn 20, Issue 9, 2014, Pages e151-e156

  Alzahrani, Ali S ^a   Aljuhani, Nasser ^b   Qasem, Ebtesam ^a   Almohanna, Mai ^a   Hamoudh, Eman ^a   Alomair, Abeer ^a   Alharbi, Naffaa ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Al Thagar Hospital   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 2; ADENINE; ALDOSTERONE; ASPARAGINE; ASPARTIC ACID; DEOXYCORTICOSTERONE; DEXAMETHASONE; GUANINE; SPIRONOLACTONE;

ALLELE; APPARENT MINERALOCORTICOID EXCESS SYNDROME; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE SEQUENCE; HSD11B2 GENE; HUMAN; HYPERTENSION; HYPOKALEMIA; INTRON; MALE; MISSENSE MUTATION; MUTATOR GENE; NUCLEIC ACID BASE SUBSTITUTION; PLASMA RENIN ACTIVITY; POLYMERASE CHAIN REACTION; SCHOOL CHILD; TREATMENT RESPONSE; WEAKNESS;

EID: 84907908195     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP14094.CR     Document Type: Article

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