Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay-Reference-Cited by-同舟云学术

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Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

Published:1999-08 Issue:2 Volume:65 Page:353-359
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Forestier Lionel,Jean Geneviève,Attard Marlene,Cherqui Stéphanie,Lewis Cathryn,van't Hoff William,Broyer Michel,Town Margaret,Antignac Corinne

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Basic local alignment search tool;Altschul;J Mol Biol,1990

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

3. Alport syndrome and diffuse leiomyomatosis: deletions in the 5′ end of the COL4A5 gene;Antignac;Kidney Int,1992

4. α1-antitrypsin deficiency;Cox,1995

5. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17;Nat Genet,1995

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4. Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation;International Journal of Molecular Sciences;2023-11-30

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