Article
Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred.
Clinical endocrinology - 1 Jun 2003
Brunner Elisa, Baima Jader, Vieira Teresa C, Vieira José G H, Abucham Julio
Abstract excerpt
OBJECTIVE: Abnormal corticosteroid-binding globulin (CBG) is an extremely rare condition and only three mutations have been described in four families. The molecular basis of an abnormal CBG in a Brazilian family was studied and correlations between genotype and serum cortisol, cortisol binding capacity (CBC) and CBG levels were determined. SUBJECTS: All 10 family members, comprising three generations, and nine...
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