𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Three siblings with triple A syndrome with a novel frameshift mutation in theAAASgene and a review of 17 independent patients with the frequent p.Ser263Pro mutation

✍ Scribed by Tatjana Milenković; Katrin Koehler; Manuela Krumbholz; Sladjana Živanović; Dragan Zdravković; Angela Huebner

Publisher
Springer
Year
2008
Tongue
English
Weight
261 KB
Volume
167
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Independent occurrence of the novel Arg2
Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes
✍ Bimal D. M. Theophilus; Mohammad S. Enayat; Miyoko Higuchi; Haig H. Kazazian; St 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB 👁 1 views

Using chemical mismatch analysis or denaturing gradient gel electrophoresis followed by nucleotide sequencing, we have identified the same G6545A mutation leading to an Arg 2163 His substitution in the factor VIII gene of three haemophiliacs from unrelated families. One of the affected individuals h

Identification of three novel mutations
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease
✍ Eun Kyung Kim; Ook Joon Yoo; Kyu Young Song; Han Wook Yoo; Sang Yong Choi; Sung 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 2 views

Four mutations-R778L, A874V, L1083F, and 2304delC-in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequen