𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and biochemical features associated withBCS1Lmutation

✍ Scribed by Al-Owain, Mohammed; Colak, Dilek; Albakheet, Albandary; Al-Younes, Banan; Al-Humaidi, Zainab; Al-Sayed, Moeen; Al-Hindi, Hindi; Al-Sugair, Abdulaziz; Al-Muhaideb, Ahmed; Rahbeeni, Zuhair; Al-Sehli, Abdullah; Al-Fadhli, Fatima; Ozand, Pinar T.; Taylor, Robert W.; Kaya, Namik

Book ID
120977958
Publisher
Springer
Year
2012
Tongue
English
Weight
694 KB
Volume
36
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Leigh syndrome: Clinical features and bi
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
✍ S. Rahman; R. B. Blok; H.-H. M. Dahl; D. M. Danks; D. M. Kirby; C. W. Chow; J. C πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 867 KB

## Abstract We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees, 35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects were determined in both groups, ie, 80% in the tightly defined group and 41% in the β€œLeigh‐like” group. Eleven