Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

By Das A.K.   Lu J-Y.   Hofmann S.L.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1431-1439

Oxford University Press

Access to resources Recommend Favorite

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

By  

Molecular Syndromology, Vol. 5, Iss. 5, 2014-08 ,pp. : 201-211

Karger

Access to resources Recommend Favorite

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

By Bonten Erik. J.  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2715-2725

Oxford University Press

Access to resources Recommend Favorite

Clinical, biochemical and molecular genetic correlations in Friedreich’s ataxia

By Bradley J.L.  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 275-282

Oxford University Press

Access to resources Recommend Favorite

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

By Purevjav Enkhsaikhan   Arimura Takuro   Augustin Sibylle   Huby Anne-Cecile   Takagi Ken   Nunoda Shinichi   Kearney Debra L.   Taylor Michael D.   Terasaki Fumio   Bos Johan M.   Ommen Steve R.   Shibata Hiroki   Takahashi Megumi   Itoh-Satoh Manatsu   McKenna William J.   Murphy Ross T.   Labeit Siegfried   Yamanaka Yoichi   Machida Noboru   Park Jeong-Euy   Alexander Peta M.A.   Weintraub Robert G.   Kitaura Yasushi   Ackerman Michael J.   Kimura Akinori   Towbin Jeffrey A.  

Human Molecular Genetics, Vol. 21, Iss. 9, 2012-05 ,pp. : 2039-2053

Oxford University Press

Access to resources Recommend Favorite