𝔖 Bobbio Scriptorium
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Waved: An autosomal recessive coat form character in the mouse

✍ Scribed by F. A. E. Crew


Book ID
112962694
Publisher
Indian Academy of Sciences
Year
1933
Tongue
English
Weight
155 KB
Volume
27
Category
Article
ISSN
0022-1333

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Exclusion of the GNAS locus in PHP-Ib pa
✍ Eduardo FernΓ‘ndez-Rebollo; Guiomar PΓ©rez de Nanclares; Beatriz Lecumberri; Serap πŸ“‚ Article πŸ“… 2011 πŸ› American Society for Bone and Mineral Research 🌐 English βš– 825 KB

## Abstract Most patients with autosomal dominant pseudohypoparathyroidism type Ib (AD‐PHP‐Ib) carry maternally inherited microdeletions upstream of __GNAS__ that are associated with loss of methylation restricted to __GNAS__ exon A/B. Only few AD‐PHP‐Ib patients carry microdeletions within __GNAS_