about
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).Discovery in genetic skin disease: the impact of high throughput genetic technologiesPalmoplantar keratodermas: clinical and genetic aspects.What's in a disease name?
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 26 September 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Cole Disease Results from Mutations in ENPP1.
@en
Cole Disease Results from Mutations in ENPP1.
@nl
type
label
Cole Disease Results from Mutations in ENPP1.
@en
Cole Disease Results from Mutations in ENPP1.
@nl
prefLabel
Cole Disease Results from Mutations in ENPP1.
@en
Cole Disease Results from Mutations in ENPP1.
@nl
P2093
P2860
P50
P1476
Cole Disease Results from Mutations in ENPP1.
@en
P2093
Alain Taieb
Dana Fuchs-Telem
Eli Sprecher
Fanny Morice-Picard
Noam Shomron
Ofer Isakov
Ofer Sarig
P2860
P304
P356
10.1016/J.AJHG.2013.08.007
P407
P577
2013-09-26T00:00:00Z