𝔖 Bobbio Scriptorium
✦   LIBER   ✦

COL1A1Mutation in an Indian Child with Caffey Disease

✍ Scribed by Prajnya Ranganath; Christine M. Laine; Divya Gupta; Outi Mäkitie; Shubha R. Phadke


Book ID
107599030
Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
112 KB
Volume
78
Category
Article
ISSN
0019-5456

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation analysis of COL1A1 and COL1A2 i
✍ Rebecca Pollitt; Robert McMahon; Janice Nunn; Robert Bamford; Amal Afifi; Nichol 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB

Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin

Thirty-three novel COL1A1 and COL1A2 mut
✍ L.M. Ward; L. Lalic; P.J. Roughley; F.H. Glorieux 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB

Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t

Homozygosity mapping through whole genom
✍ Coro Paisán-Ruiz; Geoff Scopes; Philip Lee; Henry Houlden 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB 👁 1 views

## Abstract The use of genome wide genotyping arrays has the potential to assess entire groups of genetic disorders in one application and has begun to emerge as an aid to diagnosis in clinical practice. Recessive families may suffer from diseases because of homozygosity of recessive alleles; homoz