A novel mutation exists in the transmembrane transporter protein and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum

Author： Cai Li   Lumsden Amanda   Guenther Ulf   Neldner Sarah   Zäch Stéphanie   Knoblauch Hans   Ramesar Raj   Hohl Daniel   Callen David   Neldner Kenneth   Lindpaintner Klaus   Richards Robert   Struk Berthold  

Publisher： Springer Publishing Company

ISSN： 0946-2716

Source： Journal of Molecular Medicine, Vol.79, Iss.9, 2001-09, pp. : 536-546

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

Related content

Dermoscopic features of pseudoxanthoma elasticum

By  

CLINICAL & EXPERIMENTAL DERMATOLOGY, Vol. 43, Iss. 2, 2018-03 ,pp. : 175-179

John Wiley & Sons Inc

Access to resources Recommend Favorite

Trace Element Analyses in Pseudoxanthoma Elasticum

By  

THE JOURNAL OF DERMATOLOGY, Vol. 15, Iss. 2, 1988-04 ,pp. : 99-103

John Wiley & Sons Inc

Access to resources Recommend Favorite

Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations

By Alibakhshi Reza   Moradi Keyvan   Mohebbi Zahra   Ghadiri Keyghobad  

Metabolic Brain Disease, Vol. 29, Iss. 1, 2014-03 ,pp. : 131-138

Springer Publishing Company

Access to resources Recommend Favorite

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis

By  

BRITISH JOURNAL OF DERMATOLOGY, Vol. 173, Iss. 1, 2015-07 ,pp. : 309-311

John Wiley & Sons Inc

Access to resources Recommend Favorite

Reply to “a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett‐like phenotype”

By  

ANNALS OF NEUROLOGY, Vol. 83, Iss. 2, 2018-02 ,pp. : 439-439

John Wiley & Sons Inc

Access to resources Recommend Favorite