A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome

Publisher： John Wiley & Sons Inc

E-ISSN： 1469-1809|79|3|218-224

ISSN： 0003-4800

Source： ANNALS OF HUMAN GENETICS, Vol.79, Iss.3, 2015-05, pp. : 218-224

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

Mosaic KCNJ2 mutation in Andersen–Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism

By  

CLINICAL GENETICS, Vol. 87, Iss. 3, 2015-03 ,pp. : 279-283

John Wiley & Sons Inc

Access to resources Recommend Favorite

Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

By  

CLINICAL GENETICS, Vol. 87, Iss. 3, 2015-03 ,pp. : 296-298

John Wiley & Sons Inc

Access to resources Recommend Favorite

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome

By  

Cellular Physiology and Biochemistry, Vol. 36, Iss. 6, 2015-07 ,pp. : 2250-2262

Karger

Access to resources Recommend Favorite

Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene

By        

Biomedical Reports, Vol. 2, Iss. 4, 2014-01 ,pp. : 596-598

Spandidos Publications

Access to resources Recommend Favorite

Bioinformatics evaluation of NPHS2 deletion mutation associated with congenital nephrotic syndrome in a consanguineous Pakistani family

By  

CLINICAL GENETICS, Vol. 87, Iss. 6, 2015-06 ,pp. : 599-601

John Wiley & Sons Inc

Access to resources Recommend Favorite