A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis

A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1α in autosomal recessive wooly hair/hypotrichosis

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 72, Issue 1, October 2013, Pages 61-64

Mayuko Yoshizawa, Motonobu Nakamura, Muhammad Farooq, Asuka Inoue, Junken Aoki, Yutaka Shimomura,