Homozygous α6 Integrin Mutation in Junctional Epidermolysis Bullosa with Congenital Duodenal Atresia

By Pulkkinen Leena  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 669-674

Oxford University Press

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Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging

By Bodemer C.   de Prost Y.   Gache Y.   Allegra M.   Pisani-Spadafora A.   Ortonne J.P.   Meneguzzi G.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2453-2461

Oxford University Press

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Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism

By Webb Julie C.   Patel Dilip D.   Shoulders Carol C.   Knight Brian L.   Soutar Anne K.  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1325-1331

Oxford University Press

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Nuclear bodies and compartmentalization of pre-mRNA splicing factors in higher plants

By Docquier Sarah   Tillemans Vinciane   Deltour Roger   Motte Patrick  

Chromosoma, Vol. 112, Iss. 5, 2004-02 ,pp. : 255-266

Springer Publishing Company

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A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans

By Cogan Joy D.   Prince Melissa A.   Lekhakula Somsong   Bundey Sarah   Futrakul Aree   McCarthy Eleanor M. S.   Phillips John A.  

Human Molecular Genetics, Vol. 6, Iss. 6, 1997-01 ,pp. : 909-912

Oxford University Press

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