RGD Reference Report - Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. - Rat Genome Database
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Summary
Annotation
RGD Manual Disease
Objects Annotated
General
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
Annotation
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RGD Manual Disease Annotations
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Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
SLC26A2
Human
achondrogenesis type IB
IAGP
DNA:mutations:cds:
RGD
Slc26a2
Rat
achondrogenesis type IB
ISO
SLC26A2 (Homo sapiens)
DNA:mutations:cds:
RGD
Slc26a2
Mouse
achondrogenesis type IB
ISO
SLC26A2 (Homo sapiens)
DNA:mutations:cds:
RGD
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Disease Annotations
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achondrogenesis type IB
(IAGP,ISO)
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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