A novel mutation, c.699C %26gt; G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA(6) activation ability of PA-PLA(1)alpha in autosomal recessive wooly hair/hypotrichosis

作者:Yoshizawa Mayuko; Nakamura Motonobu*; Farooq Muhammad; Inoue Asuka; Aoki Junken; Shimomura Yutaka
来源:Journal of Dermatological Science, 2013, 72(1): 61-64.
DOI:10.1016/j.jdermsci.2013.05.001