Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

Author： Tavian Daniela   Missaglia Sara   Redaelli Chiara   Pennisi Elena M.   Invernici Gloria   Wessalowski Ruediger   Maiwald Robert   Arca Marcello   Coleman Rosalind A.  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.21, Iss.24, 2012-12, pp. : 5318-5328

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

Two Novel Missense Mutations (R766M and R792G) in Exon 13 of the CFTR Gene in a Patient with Congenital Bilateral Absence of the Vas deferens

By  

Human Heredity, Vol. 50, Iss. 5, 2000-06 ,pp. : 318-319

Karger

Access to resources Recommend Favorite

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

By  

Sexual Development, Vol. 10, Iss. 4, 2016-07 ,pp. : 191-199

Karger

Access to resources Recommend Favorite

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

By  

Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 3, 2016-05 ,pp. : 273-282

John Wiley & Sons Inc

Access to resources Recommend Favorite

E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells

By Suriano Gianpaolo  

Human Molecular Genetics, Vol. 12, Iss. 22, 2003-11 ,pp. : 3007-3016

Oxford University Press

Access to resources Recommend Favorite

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

By Cross Sally H.   McKie Lisa   West Katrine   Coghill Emma L.   Favor Jack   Bhattacharya Shoumo   Brown Steve D.M.   Jackson Ian J.  

Human Molecular Genetics, Vol. 20, Iss. 2, 2011-01 ,pp. : 223-234

Oxford University Press

Access to resources Recommend Favorite