𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotype-Phenotype Correlations in Pompe Disease

✍ Scribed by A. Herzog; R. Hartung; E. Mengel; P. Hermanns; H. Runz; S. Gökce; J. Pohlenz; M. Beck


Book ID
113544416
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
79 KB
Volume
33
Category
Article
ISSN
0149-2918

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Genotype–phenotype correlations in von H
✍ Kai Ren Ong; Emma R. Woodward; Pip Killick; Caron Lim; Fiona Macdonald; Eamonn R 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB

Communicated by David N. Cooper von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutat

Genotype/phenotype correlations in aniri
✍ Sanjoy K Gupta; Inge De Becker; François Tremblay; Duane L Guernsey; Paul E Neum 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 178 KB