ATP2A2 mutations in Darier’s disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Author： Ruiz-Perez Victor L.   Carter Simon A.   Healy Eugene  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.8, Iss.9, 1999-09, pp. : 1621-1630

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

ATP2A2 mutations in Darier’s disease and their relationship to neuropsychiatric phenotypes

By Jacobsen Nick J. O.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1631-1636

Oxford University Press

Access to resources Recommend Favorite

Spectrum of novel ATP2A2 mutations in patients with Darier’s disease

By Sakuntabhai Anavaj   Burge Susan   Monk Sarah   Hovnanian Alain  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1611-1619

Oxford University Press

Access to resources Recommend Favorite

Evolution of Crohn’s disease-associated Nod2 mutations

By Gasche Christoph   Nemeth Manuela   Grundtner Paul   Willheim-Polli Claudia   Ferenci Peter   Schwarzenbacher Robert  

Immunogenetics, Vol. 60, Iss. 2, 2008-02 ,pp. : 115-120

Springer Publishing Company

Access to resources Recommend Favorite

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

By Monnier Carine   Dod Catherine   Fabre Ludovic   Teixeira Luis   Labesse Gilles   Pin Jean-Philippe   Hardelin Jean-Pierre   Rondard Philippe  

Human Molecular Genetics, Vol. 18, Iss. 1, 2009-01 ,pp. : 75-81

Oxford University Press

Access to resources Recommend Favorite

Functional analysis of neurofibromatosis 2 (NF2) missense mutations

By Gutmann D.H.   Hirbe A.C.   Haipek C.A.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1519-1529

Oxford University Press

Access to resources Recommend Favorite