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Title : Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness - Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
Author(s) : Yoshimura H , Hashimoto T , Murata T , Fukushima K , Sugaya A , Nishio SY , Usami S |
Ref : Ann Otol Rhinol Laryngol , 124 Suppl 1 :77S , 2015 |
Abstract : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
ESTHER : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
PubMedSearch : Yoshimura_2015_Ann.Otol.Rhinol.Laryngol_124 Suppl 1_77S |
PubMedID: 25743180 |
Gene_locus related to this paper: human-ABHD12 |
Title : A beta-N-acetylglucosaminyl phosphate diester residue is attached to the glycosylphosphatidylinositol anchor of human placental alkaline phosphatase: a target of the channel-forming toxin aerolysin - Fukushima_2003_J.Biol.Chem_278_36296 |
Author(s) : Fukushima K , Ikehara Y , Kanai M , Kochibe N , Kuroki M , Yamashita K |
Ref : Journal of Biological Chemistry , 278 :36296 , 2003 |
Abstract : Fukushima_2003_J.Biol.Chem_278_36296 |
ESTHER : Fukushima_2003_J.Biol.Chem_278_36296 |
PubMedSearch : Fukushima_2003_J.Biol.Chem_278_36296 |
PubMedID: 12851398 |
Title : Familial limb-girdle myasthenia with tubular aggregates - Furui_1997_Muscle.Nerve_20_599 |
Author(s) : Furui E , Fukushima K , Sakashita T , Sakato S , Matsubara S , Takamori M |
Ref : Muscle & Nerve , 20 :599 , 1997 |
Abstract : Furui_1997_Muscle.Nerve_20_599 |
ESTHER : Furui_1997_Muscle.Nerve_20_599 |
PubMedSearch : Furui_1997_Muscle.Nerve_20_599 |
PubMedID: 9140367 |