Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP

By Pirg-Garcia Katarzyna A.   Meadows Roger S.   Knowles Lynette   Heinegrd Dick   Thornton David J.   Kadler Karl E.   Boot-Handford Raymond P.   Briggs Michael D.  

Human Molecular Genetics, Vol. 16, Iss. 17, 2007-09 ,pp. : 2072-2088

Oxford University Press

Access to resources Recommend Favorite

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

By  

Molecular Syndromology, Vol. 2, Iss. 6, 2012-03 ,pp. : 237-244

Karger

Access to resources Recommend Favorite

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

By Roessler Erich  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1847-1853

Oxford University Press

Access to resources Recommend Favorite

A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 727-732

John Wiley & Sons Inc

Access to resources Recommend Favorite

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

By Blanco-Arias Patricia   Einholm Anja P.   Mamsa Hafsa   Concheiro Carla   Gutirrez-de-Tern Hugo   Romero Jess   Toustrup-Jensen Mads S.   Carracedo ngel   Jen Joanna C.   Vilsen Bente   Sobrido Mara-Jess  

Human Molecular Genetics, Vol. 18, Iss. 13, 2009-07 ,pp. : 2370-2377

Oxford University Press

Access to resources Recommend Favorite