𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in SBDS are associated with Shwachman–Diamond syndrome

✍ Scribed by Boocock, Graeme R.B.; Morrison, Jodi A.; Popovic, Maja; Richards, Nicole; Ellis, Lynda; Durie, Peter R.; Rommens, Johanna M.

Book ID
109918161
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
608 KB
Volume
33
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel mutations in pat
Identification of novel mutations in patients with Shwachman-Diamond syndrome
✍ Elena Nicolis; Alberto Bonizzato; Baroukh M. Assael; Marco Cipolli 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m