An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis ofCTNSMutation-Reference-Cited by-同舟云学术

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An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis ofCTNSMutation

Published:2009-08 Issue:4 Volume:13 Page:435-438
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Tang Sha¹,Danda Sumita²,Zoleikhaeian Mehrdad³,Simon Mariella³,Huang Taosheng¹³⁴⁵

Affiliation:

1. Division of Human Genetics, Department of Pediatrics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

2. Clinical Genetics Unit, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.

3. Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, California.

4. Department of Developmental and Cell Biology, University of California, Irvine, California.

5. Department of Pathology, University of California, Irvine, California.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0156

Reference20 articles.

1. Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

2. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

3. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unveiling cystinosis in India;Journal of Rare Diseases;2024-06-25

2. Cystinosis: Status of research and treatment in India and the world;Journal of Biosciences;2023-11-25

3. Cystinosis Registry of India: Data Analysis of Patients with Cystinosis (2023);Indian Journal of Nephrology;2023-08-17

4. Eyes are a gateway to the kidney – A rare case of cystinosis;Karnataka Paediatric Journal;2023-07-21

5. Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant;Frontiers in Pediatrics;2022-04-15

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