RGD Reference Report - Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. - Rat Genome Database

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

Authors: Superti-Furga, A  Hastbacka, J  Wilcox, WR  Cohn, DH  Van der Harten, HJ  Rossi, A  Blau, N  Rimoin, DL  Steinmann, B  Lander, ES  Gitzelmann, R 
Citation: Superti-Furga A, etal., Nat Genet. 1996 Jan;12(1):100-2.
RGD ID: 11068488
Pubmed: PMID:8528239   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0196-100   (Journal Full-text)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
achondrogenesis type IB  IAGP 11068488DNA:mutations:cds:RGD 
achondrogenesis type IB  ISOSLC26A2 (Homo sapiens)11068488; 11068488DNA:mutations:cds:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc26a2  (solute carrier family 26 member 2)

Genes (Mus musculus)
Slc26a2  (solute carrier family 26 (sulfate transporter), member 2)

Genes (Homo sapiens)
SLC26A2  (solute carrier family 26 member 2)


Additional Information