Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosis-Reference-Cited by-同舟云学术

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Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosis

Published:2002-11-19 Issue:6 Volume:20 Page:439-446
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kalatzis Vasiliki,Cohen-Solal Lola,Cordier B�atrice,Frishberg Yaacov,Kemper Markus,Nuutinen E. Matti,Legrand Eric,Cochat Pierre,Antignac Corinne

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

2. Recommendations for a nomenclature system for human gene mutations

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

4. The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif

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

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1. Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model;Cells;2024-04-06

2. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification;The American Journal of Human Genetics;2024-01

3. The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis;International Journal of Molecular Sciences;2023-01-09

4. Cystinosis;Pediatric Kidney Disease;2023

5. Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile;Muscle & Nerve;2022-06-10

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