Literature DB >> 19474522

Novel mutation of CYP21A2 gene (N387K) affecting a non-conserved amino acid residue in exon 9.

M Wasniewska, S Mirabelli, L Baldazzi, G Salzano, M F Messina, F Lombardo, M Valenzise, T Arrigo, F De Luca.   

Abstract

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Year:  2009        PMID： 19474522     DOI： 10.1007/BF03346522

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  5 in total

1.  In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype.

Authors:  M Wasniewska; G Di Pasquale; I Rulli; G Salzano; M Caruso; S Indovina; L Di Pasquale; G Zirilli; F De Luca
Journal:  J Endocrinol Invest       Date:  2007-03       Impact factor: 4.256

2.  Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Authors:  Tiina Robins; Jonas Carlsson; Maria Sunnerhagen; Anna Wedell; Bengt Persson
Journal:  Mol Endocrinol       Date:  2006-06-20

Review 3.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  P C White; P W Speiser
Journal:  Endocr Rev       Date:  2000-06       Impact factor: 19.871

4.  Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.

Authors:  Alireza Baradaran-Heravi; Rahim Vakili; Tiina Robins; Jonas Carlsson; Nosrat Ghaemi; Azadeh A'rabi; Mohammad Reza Abbaszadegan
Journal:  Clin Endocrinol (Oxf)       Date:  2007-06-15       Impact factor: 3.478

5.  Structure of human steroid 21-hydroxylase genes.

Authors:  P C White; M I New; B Dupont
Journal:  Proc Natl Acad Sci U S A       Date:  1986-07       Impact factor: 11.205
  5 in total
  1 in total

1.  Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Authors:  Carlos D Bruque; Marisol Delea; Cecilia S Fernández; Juan V Orza; Melisa Taboas; Noemí Buzzalino; Lucía D Espeche; Andrea Solari; Verónica Luccerini; Liliana Alba; Alejandro D Nadra; Liliana Dain
Journal:  Sci Rep       Date:  2016-12-14       Impact factor: 4.379
  1 in total

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