𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation Screening and Identification of a Sequence Variation in the Human OB Gene Coding Region

✍ Scribed by Robert V. Considine; Eileen L. Considine; Charlene J. Williams; Mark R. Nyce; Peili Zhang; Irina Opentanova; Joanna P. Ohannesian; Jerzy W. Kolaczynski; Thomas L. Bauer; John H. Moore; Jose F. Caro

Book ID
115578232
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
143 KB
Volume
220
Category
Article
ISSN
0006-291X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Identification of a novel mutation in th
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
✍ Alfredo RamΓ­rez; Julia Faupel; Ingrid Goebel; Anne Stiller; Susanne Beyer; Chris πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 230 KB

## Communicated by Arnold Munnich Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia. The pathophysiological basis is inadequate bone resorption due to osteoclast dysfunction. In the major