𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Functional characterization of novel mutations in the human cytochrome b gene

✍ Scribed by Legros, Frédéric; Chatzoglou, Evi; Frachon, Paule; Ogier de Baulny, Hélène; Laforêt, Pascal; Jardel, Claude; Godinot, Catherine; Lombès, Anne


Book ID
110025157
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
228 KB
Volume
9
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Three novel aniridia mutations in the hu
✍ Aruna Martha; Louise C. Strong; Robert E. Ferrell; Grady F. Saunders 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 521 KB

Communicated by Sawio L. C. WOO Aniridia (iris hypoplasia) is an autosomal dominant congenital disorder of the eye. Mutations in the human aniridia (PAX61 gene have now been identified in many patients from various ethnic groups. In the study reported here we describe PAX6 mutations in one sporadic

Severe hypophosphatasia: Characterizatio
✍ M. Spentchian; Y. Merrien; M. Herasse; Z. Dobbie; D. Gläser; S. E. Holder; S-A. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by p