Related content

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

By Brown Ruth   Head Rosemary   Boubriak Ivan   Leonard James   Thomas Neil   Brown Garry  

Human Genetics, Vol. 115, Iss. 2, 2004-07 ,pp. : 123-127

Springer Publishing Company

Access to resources Recommend Favorite

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

Access to resources Recommend Favorite

Mutations of the GREAT gene cause cryptorchidism

By Gorlov I.P.  

Human Molecular Genetics, Vol. 11, Iss. 19, 2002-07 ,pp. : 2309-2318

Oxford University Press

Access to resources Recommend Favorite

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

By Yu-Wai-Man Patrick   Sitarz Kamil S.   Samuels David C.   Griffiths Philip G.   Reeve Amy K.   Bindoff Laurence A.   Horvath Rita   Chinnery Patrick F.  

Human Molecular Genetics, Vol. 19, Iss. 15, 2010-08 ,pp. : 3043-3052

Oxford University Press

Access to resources Recommend Favorite

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1621-1626

John Wiley & Sons Inc

Access to resources Recommend Favorite