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

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

doi:10.1016/j.jdermsci.2013.05.001

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

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

PHA - Life and Pharmaceutical Science

Research output: Contribution to journal › Letter › peer-review

10 Citations (Scopus)

Original language	English
Pages (from-to)	61-64
Number of pages	4
Journal	Journal of dermatological science
Volume	72
Issue number	1
DOIs	https://doi.org/10.1016/j.jdermsci.2013.05.001
Publication status	Published - 2013 Oct

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology

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10.1016/j.jdermsci.2013.05.001

Cite this

Yoshizawa, M., Nakamura, M., Farooq, M., Inoue, A., Aoki, J., & Shimomura, Y. (2013). 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. Journal of dermatological science, 72(1), 61-64. https://doi.org/10.1016/j.jdermsci.2013.05.001

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. / Yoshizawa, Mayuko; Nakamura, Motonobu; Farooq, Muhammad et al.
In: Journal of dermatological science, Vol. 72, No. 1, 10.2013, p. 61-64.

Research output: Contribution to journal › Letter › peer-review

Yoshizawa, M, Nakamura, M, Farooq, M, Inoue, A, Aoki, J & Shimomura, Y 2013, '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', Journal of dermatological science, vol. 72, no. 1, pp. 61-64. https://doi.org/10.1016/j.jdermsci.2013.05.001

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title = "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",

author = "Mayuko Yoshizawa and Motonobu Nakamura and Muhammad Farooq and Asuka Inoue and Junken Aoki and Yutaka Shimomura",

note = "Funding Information: This work was supported in part by the Special Coordination Funds for Promoting Science and Technology from the Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT) , a Grant-in-Aid for Scientific Research on Innovative Areas ( MEXT KAKENHI 11001497 ), and a grant from the ONO Medical Research Foundation to Y.S.",

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AU - Yoshizawa, Mayuko

AU - Nakamura, Motonobu

AU - Farooq, Muhammad

AU - Inoue, Asuka

AU - Aoki, Junken

AU - Shimomura, Yutaka

N1 - Funding Information: This work was supported in part by the Special Coordination Funds for Promoting Science and Technology from the Ministry of Education, Culture, Sports, Science and Technology of Japan (MEXT) , a Grant-in-Aid for Scientific Research on Innovative Areas ( MEXT KAKENHI 11001497 ), and a grant from the ONO Medical Research Foundation to Y.S.

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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

ASJC Scopus subject areas

Access to Document

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Cite this

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