A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

BACKGROUND: Mutations in the sulfate transporter gene SLC26A2 (DTDST) cause a continuum of skeletal dysplasia phenotypes that includes achondrogenesis type 1B (ACG1B), atelosteogenesis type 2 (AO2), diastrophic dysplasia (DTD), and recessive multiple epiphyseal dysplasia (rMED). In 1972, de la Chape...

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Udgivet i:J Med Genet
Main Authors: Bonafé, L, Hästbacka, J, de la Chapelle, A, Campos-Xavier, A B, Chiesa, C, Forlino, A, Superti-Furga, A, Rossi, A
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361899/
https://ncbi.nlm.nih.gov/pubmed/18708426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.057158
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