Related content

Compound heterozygosity and nonsense mutations in the α-subunit of the inhibitory glycine receptor in hyperekplexia

By Rees Mark   Lewis Trevor   Vafa Behnaz   Ferrie Colin   Corry Peter   Muntoni Fransesco   Jungbluth Heinz   Stephenson John   Kerr Mike   Snell Russell   Schofield Peter   Owen Michael  

Human Genetics, Vol. 109, Iss. 3, 2001-09 ,pp. : 267-270

Springer Publishing Company

Access to resources Recommend Favorite

Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p

By Gordon D.M.  

Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 259-269

Oxford University Press

Access to resources Recommend Favorite

Functional features of the C-terminal region of yeast ribosomal protein L5

By Moradi Hossein  

Molecular Genetics and Genomics, Vol. 280, Iss. 4, 2008-10 ,pp. : 337-350

Springer Publishing Company

Access to resources Recommend Favorite

Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

By Clifford S.C.  

Human Molecular Genetics, Vol. 10, Iss. 10, 2001-05 ,pp. : 1029-1038

Oxford University Press

Access to resources Recommend Favorite

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

By Baye Lisa M.   Patrinostro Xiaobai   Swaminathan Svetha   Beck John S.   Zhang Yan   Stone Edwin M.   Sheffield Val C.   Slusarski Diane C.  

Human Molecular Genetics, Vol. 20, Iss. 8, 2011-04 ,pp. : 1467-1477

Oxford University Press

Access to resources Recommend Favorite