Ontology highlight
ABSTRACT:
SUBMITTER: Hendig D
PROVIDER: S-EPMC3685813 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Hendig Doris D Knabbe Cornelius C Götting Christian C
Frontiers in genetics 20130619
Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that second ...[more]