Novel EDA hemizygous...

The Journal of Dermatology 2014 / 12 Vol. 41; Iss. 12

Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

Kurihara, Yuichi, Hayashi, Ryota, Watanabe, Emiko, Miyakawa, Shun-ichi, Kajiwara, Kumiko, Matsuda, Maiko, Yoshida, Kazue, Shimomura, Yutaka, Niizeki, Hironori
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Volume:
41
Language:
english
Journal:
The Journal of Dermatology
DOI:
10.1111/1346-8138.12701
Date:
December, 2014
File:
PDF, 312 KB
english, 2014
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