Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification

Role of the Mouse <i>ank</i> Gene in Control of Tissue Calcification and Arthritis

Andrew M. Ho, Michelle D. Johnson, David M. Kingsley · Science · 2000 · 647 citations

Medicine, Genetics, Molecular Biology +14

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 603 citations

Life Sciences, Genetics, Molecular Genetics +8

PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

Frank Rutsch, Sucheta M. Vaingankar, Kristen Johnson et al. · American Journal Of Pathology · 2001 · 300 citations · Full text

Medicine, Biochemistry, Pediatrics +6

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler et al. · Nature Genetics · 2001 · 243 citations

Medicine, Genetics, Molecular Genetics +17

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Ernst Reichenberger, Valdenize Tiziani, Shôji Watanabe et al. · The American Journal of Human Genetics · 2001 · 198 citations · Full text

Medicine, Genetics, Molecular Genetics +14