Title : Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood - Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
Author(s) : Tanahashi K , Sugiura K , Takeichi T , Takama H , Shinkuma S , Shimizu H , Akiyama M |
Ref : J Eur Acad Dermatol Venereol , 27 :1182 , 2013 |
Abstract : |
PubMedSearch : Tanahashi_2013_J.Eur.Acad.Dermatol.Venereol_27_1182 |
PubMedID: 22449147 |
Gene_locus related to this paper: human-LIPH |
Title : The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair\/hypotrichosis - |
Author(s) : Shinkuma S , Inoue A , Aoki J , Nishie W , Natsuga K , Ujiie H , Nomura T , Abe R , Akiyama M , Shimizu H |
Ref : Journal of Investigative Dermatology , 132 :2093 , 2012 |
PubMedID: 22475755 |
Gene_locus related to this paper: human-LIPH |
Title : Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis - Shinkuma_2010_Hum.Mutat_31_602 |
Author(s) : Shinkuma S , Akiyama M , Inoue A , Aoki J , Natsuga K , Nomura T , Arita K , Abe R , Ito K , Nakamura H , Ujiie H , Shibaki A , Suga H , Tsunemi Y , Nishie W , Shimizu H |
Ref : Hum Mutat , 31 :602 , 2010 |
Abstract : |
PubMedSearch : Shinkuma_2010_Hum.Mutat_31_602 |
PubMedID: 20213768 |
Gene_locus related to this paper: human-LIPH |