Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression

By Schäfer M.   Brümmendorf T.   de Angelis E.   Watkins A.   Kenwrick S.  

Human Molecular Genetics, Vol. 11, Iss. 1, 2002-01 ,pp. : 1-12

Oxford University Press

Access to resources Recommend Favorite

Prediction of pathogenic mutations in mitochondrially encoded human tRNAs

By Kondrashov Fyodor A.  

Human Molecular Genetics, Vol. 14, Iss. 16, 2005-08 ,pp. : 2415-2419

Oxford University Press

Access to resources Recommend Favorite

Long L1 insertions in human gene introns specifically reduce the content of corresponding primary transcripts

By Ustyugova Svetlana   Lebedev Yuri   Sverdlov Eugene  

Genetica, Vol. 128, Iss. 1-3, 2006-09 ,pp. : 261-272

Springer Publishing Company

Access to resources Recommend Favorite

Neural cell recognition molecule L1: relating biological complexity to human disease mutations

By Kenwrick Sue   Watkins Alex   Angelis Elena De  

Human Molecular Genetics, Vol. 9, Iss. 6, 2000-04 ,pp. : 879-886

Oxford University Press

Access to resources Recommend Favorite

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

By Ibrahimi Omar A.  

Human Molecular Genetics, Vol. 13, Iss. 19, 2004-10 ,pp. : 2313-2324

Oxford University Press

Access to resources Recommend Favorite