First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

Salvatore Maria Corsello, Cinzia Carrozza, Concetta Santonocito, Paola Concolino, Angelo Minucci, Cecilia Zuppi, Ettore Domenico Capoluongo, Rm Lovicu, Sa Santini, F Ameglio

Research output: Contribution to journalArticle

Abstract

To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.
Original languageEnglish
Pages (from-to)1435-1436
Number of pages2
JournalClinical Biochemistry
Volume40
DOIs
Publication statusPublished - 2007

Keywords

  • Adrenal Hyperplasia, Congenital
  • Adult
  • Female
  • Genotype
  • Humans
  • Isoleucine
  • Italy
  • Male
  • Polymorphism, Genetic
  • Siblings
  • Steroid 21-Hydroxylase
  • Valine

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