✦ LIBER ✦

Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair

✍ Scribed by Takashi YOSHIMASU; Nobuo KANAZAWA; Naotomo KAMBE; Motonobu NAKAMURA; Fukumi FURUKAWA

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prevalent founder mutation c.736T>A of L

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A novel deletion mutation in the LPAR6 g

✍ Liu, L. H.; Chen, G.; Wang, J. W.; Liu, S. X.; Wang, J. B.; Zhou, F. S.; Zhu, J. 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 294 KB

Identification of a novel PNPLA1 mutatio

✍ Fachal, L.; Rodríguez-Pazos, L.; Ginarte, M.; Carracedo, A.; Toribio, J.; Vega, 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 277 KB

Identification of a truncation mutation

✍ Mohammed A. Aldahmesh; Arif O. Khan; Jawahir Y. Mohamed; Mohammed H. Alghamdi; F 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB

A novel mutation of the fumarase gene in

✍ Anne M. Remes; Sirpa A. Filppula; Heikki Rantala; Jaakko Leisti; Aimo Ruokonen; 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 486 KB

Identification of a novel mutation in th

✍ M Corton; MJ Blanco; M Torres; M Sanchez-Salorio; A Carracedo; M Brion 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 726 KB