𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotype–phenotype correlations and pharmacogenetic studies in 140 Swedish families with osteogenesis imperfecta

✍ Scribed by K. Lindahl; C.-J. Rubin; E. Åström; B. Malmgren; A. Kindmark; Ö. Ljunggren⁎


Book ID
116325436
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
74 KB
Volume
50
Category
Article
ISSN
8756-3282

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation screening and genotype-phenotyp
✍ Muriel Bost; Alain Lachaux; Michèle Accominotti; Antoon Vandenberghe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 2 views

Wilson disease (WD) is an autosomal recessive disorder of copper transport, manifesting as chronic liver disease and/or neurologic impairment due to accumulation of copper in several tissues, principally the liver and the brain. The WD gene encodes a copper transporting P-type ATPase that is defecti

SMNT and NAIP mutations in Canadian fami
✍ Simard, Louise R.; Rochette, Camille; Semionov, Alexandre; Morgan, Kenneth; Vana 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 2 views

Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive neuropathy characterized by selective degeneration of alpha-motor neuron cells of the spinal cord. Age of onset and motor development varies greatly among patients, but the molecular basis of this variability remains unclear. Th