Pakistani Type Spondyloepimetaphyseal Dysplasia

mutation in PAPSS2

Also Known As:

Spondyloepimetaphyseal Dysplasia, Pakistani Type; SEMD, Pakistani Type

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Drugs and Important Biological Agents (IBA) related to Pakistani Type Spondyloepimetaphyseal Dysplasia:

1.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2013 - "We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in PAPSS2. "
2.	Codon (Codons)IBA 06/01/2013 - "We describe five patients from a Turkish family with SEMD Pakistani type with homozygosity for a nonsense mutation (p.R329X) leading to a stop codon in PAPSS2. "
3.	N-acetyltalosaminuronic acid (NAT)IBA 05/01/2007 - "Mutations within the murine and the human PAPSS2 genes are responsible for diseases affecting the skeletal system (Kurima et al. [1998] Proc Natl Acad Sci USA 95:8681-8685; ul Haque et al. [1998] Nat Genet 20:157-162), like the spondyloepimetaphyseal dysplasia (SEMD) Pakistani type. "