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

Health Sciences Medicine and Dentistry Dermatology

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