Mutations of OCTN2 , an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

By Ganapathy V.  

Human Molecular Genetics, Vol. 8, Iss. 4, 1999-04 ,pp. : 655-660

Oxford University Press

Access to resources Recommend Favorite

Pedimap: Software for the Visualization of Genetic and Phenotypic Data in Pedigrees

By Voorrips Roeland E.   Bink Marco C. A. M.   van de Weg W. Eric  

Journal of Heredity, Vol. 103, Iss. 6, 2012-09 ,pp. : 903-907

Oxford University Press

Access to resources Recommend Favorite

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2162-2167

John Wiley & Sons Inc

Access to resources Recommend Favorite

Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency

By Kira R.   Ihara Kenji   Takada Hidetoshi   Gondo Kenjiro   Hara Toshiro  

Human Genetics, Vol. 102, Iss. 6, 1998-07 ,pp. : 605-610

Springer Publishing Company

Access to resources Recommend Favorite

Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

By Mori Keisuke   Horie-Inoue Kuniko   Kohda Masakazu   Kawasaki Izumi   Gehlbach Peter   Awata Takuya   Yoneya Shin   Okazaki Yasushi   Inoue Satoshi  

Journal of Human Genetics, Vol. 52, Iss. 7, 2007-07 ,pp. : 636-641

Springer Publishing Company

Access to resources Recommend Favorite