✦ LIBER ✦

Reply to “Mutations of PAX3 unlikely in Waardenburg syndrome type 2”

✍ Scribed by Read, Andrew P.; Newton, Valerie; Patton, Michael

Book ID: 109916907
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 108 KB
Volume: 5
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0993-8b

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations of PAX3 unlikely in Waardenbur

Mutations of PAX3 unlikely in Waardenburg syndrome type 2

✍ Arias, Sergio 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 108 KB

Mutations in PAX3 associated with waarde

Mutations in PAX3 associated with waardenburg syndrome type I

✍ Clinton T. Baldwin; Nina R. Lipsky; Christopher F. Hoth; Tirza Cohen; Wilfred Ma 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 870 KB

Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Disease causing PAX3 mutations have been identified

Mutations in the PAX3 gene causing Waard

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

✍ Tassabehji, May; Read, Andrew P.; Newton, Valerie E.; Patton, Michael; Gruss, Pe 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 611 KB

Three novel PAX3 mutations observed in p

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1

✍ Hidenobu Soejima; Masahiro Fujimoto; Kazuhiro Tsukamoto; Naomichi Matsumoto; Koh 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB 👁 1 views

Mutations in PAX3 that cause Waardenburg

Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

✍ Baldwin, Clinton T. ;Hoth, Christopher F. ;Macina, Roberto A. ;Milunsky, Aubrey 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 819 KB

A novel missense mutation Ile59Asn in th

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1

✍ T.G. Markova; S.P. Shevtsov; L.N. Moskolenko; A.A. Lantsov; E.I. Schwartz 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views