Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: Evidence for a mutational hot spot in the mineralocorticoid receptor gene

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 9, 2006, Pages 3671-3675

  Fernandes Rosa, Fabio L ^a   De Castro, Margaret ^a   Latronico, Ana Claudia ^a   Sippell, Wolfgang G ^b   Riepe, Felix G ^b   Antonini, Sonir R ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MINERALOCORTICOID RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA EXTRACTION; DNA SEQUENCE; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL; PSEUDOHYPOALDOSTERONISM;

EID: 33748755875     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0605     Document Type: Article

References (20)

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