The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region-Reference-Cited by-同舟云学术

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region

Published:2001-10 Issue:4 Volume:69 Page:712-721
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Phornphutkul Chanika,Anikster Yair,Huizing Marjan,Braun Paula,Brodie Chaya,Chou Janice Y.,Gahl William A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. A bidirectional promoter connects the poly(ADP-ribose) polymerase 2 (PARP-2) gene to the gene for RNase P RNA;Ame;J Biol Chem,2001

2. Ocular, non-nephropathic cystinosis: clinical, biochemical and molecular correlations;Anikster;Pediatr Res,2000

3. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS);Anikster;Mol Genet Metab,1999

4. CTNS mutations in patients with cystinosis;Anikster;Hum Mutat,1999

5. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin;Attard;Hum Mol Genet,1999

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