Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

By Burwinkel B.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 149-154

Oxford University Press

Access to resources Recommend Favorite

X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2 , the Gene Encoding the Liver α Subunit of Phosphorylase Kinase

By Hendrickx Jan   Dams Erna   Coucke Paul   Lee Philip   Fernandes John   Willems Patrick J.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 649-652

Oxford University Press

Access to resources Recommend Favorite

Mutation Hotspots in the PHKA2 G Gene in X-Linked Liver Glycogenosis Due to Phosphorylase Kinase Deficienc with Atypical Activity in Blood Cells (XLG2)

By Burwinkel Barbara   Shin Yoon S.   Bakker Henk D.   Deutsch Johann   José Lozano María   Maire Irène   Kilimann Manfred W.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 653-658

Oxford University Press

Access to resources Recommend Favorite

-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

By Quinlan Kate G.R.   Seto Jane T.   Turner Nigel   Vandebrouck Aurelie   Floetenmeyer Matthias   Macarthur Daniel G.   Raftery Joanna M.   Lek Monkol   Yang Nan   Parton Robert G.   Cooney Gregory J.   North Kathryn N.  

Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1335-1346

Oxford University Press

Access to resources Recommend Favorite

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

By Tyynismaa Henna   Sun Ren   Ahola-Erkkilä Sofia   Almusa Henrikki   Pöyhönen Rosanna   Korpela Mari   Honkaniemi Jari   Isohanni Pirjo   Paetau Anders   Wang Liya   Suomalainen Anu  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 66-75

Oxford University Press

Access to resources Recommend Favorite