Literature for peptidase M14.018: carboxypeptidase A6
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Sapio,M.R., Vessaz,M., Thomas,P., Genton,P., Fricker,L.D. and Salzmann,A.
Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy
PLoS ONE10, e0123180-e0123180. PubMed Europe PubMed DOI M -
Salzmann,A., Guipponi,M., Lyons,P.J., Fricker,L.D., Sapio,M., Lambercy,C., Buresi,C., Ouled Amar Bencheikh,B., Lahjouji,F., Ouazzani,R., Crespel,A., Chaigne,D. and Malafosse,A.
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy
Hum Mutat33, 124-135. PubMed Europe PubMed DOI M -
Sapio,M.R., Salzmann,A., Vessaz,M., Crespel,A., Lyons,P.J., Malafosse,A. and Fricker,L.D.
Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy
J Biol Chem287, 42900-42909. PubMed Europe PubMed DOI M -
Lyons,P.J., Callaway,M.B. and Fricker,L.D.
Characterization of carboxypeptidase A6, an extracellular matrix peptidase
J Biol Chem283, 7054-7063. PubMed Europe PubMed DOI M -
Pizzuti,A., Calabrese,G., Bozzali,M., Telvi,L., Morizio,E., Guida,V., Gatta,V., Stuppia,L., Ion,A., Palka,G. and Dallapiccola,B.
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a Duane syndrome patient
Invest Ophthalmol Vis Sci43, 3609-3612. PubMed Europe PubMed M
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