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Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

✍ Scribed by Antonio Rossi; Andrea Superi-Furga

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 51 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1152

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✦ Synopsis

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 mutation.

Both Table

📜 SIMILAR VOLUMES

Mutations in the diastrophic dysplasia s

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

✍ 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