The mutation spectrum of the facilitative glucose transporter gene in patients with Fanconi-Bickel syndrome

By Santer René   Groth Sebastian   Kinner Martina   Dombrowski Anja   Berry Gerard   Brodehl Johannes   Leonard James   Moses Shimon   Norgren Svante   Skovby Flemming   Schneppenheim Reinhard   Steinmann Beat   Schaub Jürgen  

Human Genetics, Vol. 110, Iss. 1, 2002-01 ,pp. : 21-29

Springer Publishing Company

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Functional analysis of novel mutations in y + LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)

By Mykkänen Juha  

Human Molecular Genetics, Vol. 9, Iss. 3, 2000-02 ,pp. : 431-438

Oxford University Press

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Mutation of a putative mitochondrial iron transporter gene ( ABC7 ) in X-linked sideroblastic anemia and ataxia (XLSA/A)

By Allikmets R.  

Human Molecular Genetics, Vol. 8, Iss. 5, 1999-05 ,pp. : 743-749

Oxford University Press

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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

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Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

By Nakashima Eiji   Mabuchi Akihiko   Makita Yoshio   Masuno Mitsuo   Ohashi Hirofumi   Nishimura Gen   Ikegawa Shiro  

Human Genetics, Vol. 114, Iss. 4, 2004-03 ,pp. : 345-348

Springer Publishing Company

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