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A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans

✍ Scribed by A. Superti-Furga; J. HÄStbacka; A. Rossi; J. J. Van Der Harten; W. R. Wilcox; D. H. Cohn; D. L. Rimoin; B. Steinmann; E. S. Lander; R. Gitzelmann


Book ID
119873782
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
357 KB
Volume
785
Category
Article
ISSN
0890-6564

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📜 SIMILAR VOLUMES


Mutations in the diastrophic dysplasia s
✍ Antonio Rossi; Andrea Superi-Furga 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB

1. Figure 2 reports a deletion 933 del T. This should be corrected to 933-934 del CT (compare with Table 1, where mutation is reported correctly). 1 and Figure 2 report a mutation 430C>A (Q135R). This should be corrected to 430C>A (Q135K), as lysine, not arginine, is the codon resulting from the mut

Mutations in the diastrophic dysplasia s
✍ Antonio Rossi; Andrea Superti-Furga 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 312 KB

Mutations in the DTDST gene can result in a family of skeletal dysplasia conditions which comprise two lethal disorders, achondrogenesis type 1B (ACG1B) and atelosteogenesis type 2 (AO2); and two non-lethal disorders, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia (rMED). Th