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Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.
Baquedano, María Sonia; Guercio, Gabriela; Marino, Roxana; Berensztein, Esperanza; Costanzo, Mariana; Bailez, Marcela; Vaiani, Elisa; Maceiras, Mercedes; Ramirez, Pablo; Chaler, Eduardo; Rivarola, Marco A; Belgorosky, Alicia.
Affiliation
  • Baquedano MS; Endocrine Service, Hospital de Pediatria Garrahan, Buenos Aires C1245AAM, Argentina.
J Clin Endocrinol Metab ; 98(1): E153-61, 2013 Jan.
Article in En | MEDLINE | ID: mdl-23175692
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Protein Sorting Signals / Adrenal Hyperplasia, Congenital / Mutation, Missense / Disorder of Sex Development, 46,XY / Mitochondria Type of study: Prognostic_studies Limits: Animals / Child / Female / Humans / Male / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 2013 Document type: Article Affiliation country: Argentina
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Protein Sorting Signals / Adrenal Hyperplasia, Congenital / Mutation, Missense / Disorder of Sex Development, 46,XY / Mitochondria Type of study: Prognostic_studies Limits: Animals / Child / Female / Humans / Male / Newborn Language: En Journal: J Clin Endocrinol Metab Year: 2013 Document type: Article Affiliation country: Argentina