Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Nat Genet

Authors	A Superti-Furga J Hästbacka W Wilcox D Cohn H van der Harten Rossi N Blau D Rimoin B Steinmann E Lander R Gitzelmann
Keywords	Female Humans Male Carrier Proteins Sequence Deletion Point Mutation Anion Transport Proteins Membrane Transport Proteins Proteoglycans Sulfates Achondroplasia Cartilage
Year of Publication	1996
Journal	Nat Genet
Volume	12
Issue	1
Pages	100-2
Date Published	1996 Jan
ISSN	1061-4036
DOI	10.1038/ng0196-100
PubMed ID	8528239
Links
Grant list	HD 22657 / HD / NICHD NIH HHS / United States HG00098 / HG / NHGRI NIH HHS / United States