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Title : Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878 |
Author(s) : Logan CV , Cossins J , Rodriguez Cruz PM , Parry DA , Maxwell S , Martinez-Martinez P , Riepsaame J , Abdelhamed ZA , Lake AV , Moran M , Robb S , Chow G , Sewry C , Hopkins PM , Sheridan E , Jayawant S , Palace J , Johnson CA , Beeson D |
Ref : American Journal of Human Genetics , 97 :878 , 2015 |
Abstract : Logan_2015_Am.J.Hum.Genet_97_878 |
ESTHER : Logan_2015_Am.J.Hum.Genet_97_878 |
PubMedSearch : Logan_2015_Am.J.Hum.Genet_97_878 |
PubMedID: 26626625 |
Title : A specific human lysophospholipase: cDNA cloning, tissue distribution and kinetic characterization - Wang_1999_Biochim.Biophys.Acta_1437_157 |
Author(s) : Wang A , Yang HC , Friedman P , Johnson CA , Dennis EA |
Ref : Biochimica & Biophysica Acta , 1437 :157 , 1999 |
Abstract : Wang_1999_Biochim.Biophys.Acta_1437_157 |
ESTHER : Wang_1999_Biochim.Biophys.Acta_1437_157 |
PubMedSearch : Wang_1999_Biochim.Biophys.Acta_1437_157 |
PubMedID: 10064899 |
Gene_locus related to this paper: human-LYPLA1 |