A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I)

By Wenstrup Richard J.   Langland Gregory T.   Willing Marcia C.   D'Souza Vinita N.   Cole William G.  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1733-1736

Oxford University Press

Access to resources Recommend Favorite

Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

By Kielty C.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2415-2423

Oxford University Press

Access to resources Recommend Favorite

Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (4GalT-7) deficient form of EhlersDanlos syndrome

By Gtte Martin   Spillmann Dorothe   Yip George W.   Versteeg Elly   Echtermeyer Frank G.   van Kuppevelt Toin H.   Kiesel Ludwig  

Human Molecular Genetics, Vol. 17, Iss. 7, 2008-04 ,pp. : 996-1009

Oxford University Press

Access to resources Recommend Favorite

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

By Hucthagowder Vishwanathan   Morava Eva   Kornak Uwe   Lefeber Dirk J.   Fischer Bjrn   Dimopoulou Aikaterini   Aldinger Annika   Choi Jiwon   Davis Elaine C.   Abuelo Dianne N.   Adamowicz Maciej   Al-Aama Jumana   Basel-Vanagaite Lina   Fernandez Bridget   Greally Marie T.   Gillessen-Kaesbach Gabriele   Kayserili Hulya   Lemyre Emmanuelle   Tekin Mustafa   Trkmen Seval   Tuysuz Beyhan   Yksel-Konuk Berrin   Mundlos Stefan   Van Maldergem Lionel   Wevers Ron A.   Urban Zsolt  

Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2149-2165

Oxford University Press

Access to resources Recommend Favorite

Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion

By  

Sexual Development, Vol. 8, Iss. 4, 2014-06 ,pp. : 139-145

Karger

Access to resources Recommend Favorite