A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

Publisher： Karger

E-ISSN： 1663-2826|65|4|171-176

ISSN： 1663-2818

Source： Hormone Research in Paediatrics, Vol.65, Iss.4, 2006-05, pp. : 171-176

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Three Children with Triple A Syndrome due to a Mutation (R478X) in the AAAS Gene

By  

Hormone Research in Paediatrics, Vol. 61, Iss. 1, 2004-03 ,pp. : 3-6

Karger

Access to resources Recommend Favorite

Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome

By  

Hormone Research in Paediatrics, Vol. 86, Iss. 2, 2016-07 ,pp. : 90-93

Karger

Access to resources Recommend Favorite

Octreotide-Induced Long QT Syndrome in a Child with Congenital Hyperinsulinemia and a Novel Missense Mutation (p.Met115Val) in the ABCC8 Gene

By  

Hormone Research in Paediatrics, Vol. 80, Iss. 4, 2013-09 ,pp. : 299-303

Karger

Access to resources Recommend Favorite

A Novel Nonsense Mutation of the KAL Gene in Two Brothers withKallmann Syndrome

By  

Hormone Research in Paediatrics, Vol. 53, Iss. 4, 2000-10 ,pp. : 207-212

Karger

Access to resources Recommend Favorite

Assessment of p57KIP2 Gene Mutation in Beckwith-Wiedemann Syndrome

By  

Hormone Research in Paediatrics, Vol. 54, Iss. 1, 2001-02 ,pp. : 1-5

Karger

Access to resources Recommend Favorite