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

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Serval ID
serval:BIB_2E0C4F78B3BB
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Production externe
Title
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Journal
Nature Genetics
Author(s)
Superti-Furga A., Hästbacka J., Wilcox W.R., Cohn D.H., van der Harten H.J., Rossi A., Blau N., Rimoin D.L., Steinmann B., Lander E.S., Gitzelmann R.
ISSN
1061-4036 (Print)
ISSN-L
1061-4036
Publication state
Published
Issued date
1996
Volume
12
Number
1
Pages
100-102
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. Publication Status: ppublish
Keywords
Achondroplasia/genetics, Anion Transport Proteins, Carrier Proteins/genetics, Cartilage/metabolism, Female, Humans, Male, Membrane Transport Proteins, Point Mutation, Proteoglycans/metabolism, Sequence Deletion, Sulfates/metabolism
DOI
10.1038/ng0196-100
Pubmed
8528239
Web of science
A1996TM55500025
Create date
14/03/2011 17:14
Last modification date
20/08/2019 14:12
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