Results 181 to 186 of about 2,873 (186)

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations inABCC6

Human Mutation, 2005
Amanda L Lumsden, Raj Ramesar, Kenneth H Neldner   +2 more
exaly  

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum

Journal of the European Academy of Dermatology and Venereology, 2007
N Chassaing, E Esteve, Marc Le Bert
exaly  

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

European Journal of Human Genetics, 2003
Jan Wijnholds, Jacoline B Ten Brink, L Ingeborgh Van Den Born   +2 more
exaly  

Immunohistochemical characterization of elastofibroma and exclusion of ABCC6 as a predisposing gene

British Journal of Dermatology, 2007
M, Naouri, P, Michenet, N, Chassaing, L, Martin   +3 more
openaire   +2 more sources

Contribution ofABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients

Human Mutation, 2007
Nicolas Chassaing, Ludovic Martin, Sylvie Bourthoumieu   +2 more
exaly  

New insights into the roles of the N-terminal region of the ABCC6 transporter

Journal of Bioenergetics and Biomembranes, 2016
Rocchina Miglionico, Andrea Gerbino, Angela Ostuni   +2 more
exaly