✦ LIBER ✦

A Novel Mutation in K6b in Pachyonychia Congenita Type 2

✍ Scribed by Sharma, Vishakha M; Stein, Sarah L

Book ID: 110049888
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 74 KB
Volume: 127
Category: Article
ISSN: 0022-202X
DOI: 10.1038/sj.jid.5700814

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation of a type II keratin gene (K6a)

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

✍ Bowden, Paul E.; Haley, Joanne L.; Kansky, Aleksej; Rothnagel, Joseph A.; Jones, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 652 KB

A novel missense mutation L468Q of kerat

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1

✍ H-L Zhou; S Yang; M Gao; X-Y Zhao; Y-G Zhu; W Li; Y-Q Ren; Y-H Liang; W-H Du; X- 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB

Novel and recurrent keratin 6A (KRT6A) m

Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1

✍ Y.M. Lv; S. Yang; Z. Zhang; Y. Cui; C. Quan; F.S. Zhou; Q.Y. Fang; W.H. Du; F.R 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 291 KB

Recurrent mutation in keratin 17 in a la

Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2

✍ Carol Oh Adib; Brad Jones; Haihui Liao; Frances J. D. Smith; Rustum Solomon; Con 📂 Article 📅 2008 🏛 Springer-Verlag 🌐 English ⚖ 229 KB

A severe case of pachyonychia congenita

A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a

✍ I. García-Rio; P.F. Peñas; A. García-Díez; W.H.I. McLean; F.J.D. Smith 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB

Novel proline substitution mutations in

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

✍ F.J.D. Smith; M. Del Monaco; P.M. Steijlen; C.S. Munro; M. Morvay; C.M. Coleman; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 636 KB

Pachyonychia congenita (PC) is a group of inherited ectodermal dysplasias, the characteristic phenotype being hypertrophic nail dystrophy. Two main clinical subtypes, PC-1 and PC-2, are inherited as autosomal dominant disorders, but other less well characterized clinical forms also exist. The PC-1 p