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Title : Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review - Kettwig_2016_BMC.Neurol_16_74 |
Author(s) : Kettwig M , Elpeleg O , Wegener E , Dreha-Kulaczewski S , Henneke M , Gartner J , Huppke P |
Ref : BMC Neurol , 16 :74 , 2016 |
Abstract : Kettwig_2016_BMC.Neurol_16_74 |
ESTHER : Kettwig_2016_BMC.Neurol_16_74 |
PubMedSearch : Kettwig_2016_BMC.Neurol_16_74 |
PubMedID: 27206732 |
Title : The unusual extended C-terminal helix of the peroxisomal alpha\/beta-hydrolase Lpx1 is involved in dimer contacts but dispensable for dimerization - Thoms_2011_J.Struct.Biol_175_362 |
Author(s) : Thoms S , Hofhuis J , Thoing C , Gartner J , Niemann HH |
Ref : J Struct Biol , 175 :362 , 2011 |
Abstract : Thoms_2011_J.Struct.Biol_175_362 |
ESTHER : Thoms_2011_J.Struct.Biol_175_362 |
PubMedSearch : Thoms_2011_J.Struct.Biol_175_362 |
PubMedID: 21741480 |
Gene_locus related to this paper: yeast-YOR084W |