A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)

By Mårdh C.K.  

Human Molecular Genetics, Vol. 11, Iss. 9, 2002-05 ,pp. : 1069-1074

Oxford University Press

Access to resources Recommend Favorite

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

By Mendoza Gustavo   Pemberton Trevor   Lee Kwanghyuk   Scarel-Caminaga Raquel   Mehrian-Shai Ruty   Gonzalez-Quevedo Catalina   Ninis Vasiliki   Hartiala Jaana   Allayee Hooman   Snead Malcolm   Leal Suzanne   Line Sergio   Patel Pragna  

Human Genetics, Vol. 120, Iss. 5, 2007-01 ,pp. : 653-662

Springer Publishing Company

Access to resources Recommend Favorite

Enamelin ( Enam ) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)

By Masuya Hiroshi  

Human Molecular Genetics, Vol. 14, Iss. 5, 2005-03 ,pp. : 575-583

Oxford University Press

Access to resources Recommend Favorite

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

By Timms Kirsten   Wagner Susanne   Samuels Mark   Forbey Kristian   Goldfine Howard   Jammulapati Srikanth   Skolnick Mark   Hopkins Paul   Hunt Steve   Shattuck Donna  

Human Genetics, Vol. 114, Iss. 4, 2004-03 ,pp. : 349-353

Springer Publishing Company

Access to resources Recommend Favorite

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

By Monnier Nicole  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2599-2608

Oxford University Press

Access to resources Recommend Favorite