Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome

Publisher： John Wiley & Sons Inc

E-ISSN： 1399-0004|88|1|80-84

ISSN： 0009-9163

Source： CLINICAL GENETICS, Vol.88, Iss.1, 2015-07, pp. : 80-84

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

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

By  

CLINICAL GENETICS, Vol. 87, Iss. 6, 2015-06 ,pp. : 576-581

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification of a novel gene (Hsdr4) involved in water-stress tolerance in wild barley

By Suprunova Tatiana   Krugman Tamar   Distelfeld Assaf   Fahima Tzion   Nevo Eviatar   Korol Abraham  

Plant Molecular Biology, Vol. 64, Iss. 1-2, 2007-05 ,pp. : 17-34

Springer Publishing Company

Access to resources Recommend Favorite

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

By  

CLINICAL GENETICS, Vol. 87, Iss. 2, 2015-02 ,pp. : 148-154

John Wiley & Sons Inc

Access to resources Recommend Favorite

Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes

By  

TRAFFIC (ELECTRONIC), Vol. 16, Iss. 7, 2015-07 ,pp. : 727-742

John Wiley & Sons Inc

Access to resources Recommend Favorite

Identification of a novel HLA‐A*33 allele, HLA‐*33:03:13, in a Chinese family

By  

TISSUE ANTIGENS, Vol. 85, Iss. 2, 2015-02 ,pp. : 136-138

John Wiley & Sons Inc

Access to resources Recommend Favorite