Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome-Reference-Cited by-同舟云学术

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

Published:2008-02 Issue:2 Volume:128 Page:322-325
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Jouary Thomas,Goizet Cyril,Coupry Isabelle,Redonnet-Vernhet Isabelle,Levade Thierry,Burgelin Ingrid,Toutain Annick,Delaporte Emmanuel,Douillard Claire,Lacombe Didier,Taieb Alain,Arveiler Benoît

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference6 articles.

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2. Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon–Lefevre;Lefèvre;J Invest Dermatol,2001

3. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis;Niel;J Med Genet,2004

4. Mutations analysis of the cathepsin C gene in Indian families with Papillon–Lefevre syndrome;Selvaraju;BMC Med Genet,2003

5. Detection of trisomy 21 by quantitative fluorescent-polymerase chain reaction in uncultured amniocytes;Solassol;Prenat Diagn,2003

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1. Cathepsin C in health and disease: from structural insights to therapeutic prospects;Journal of Translational Medicine;2024-08-20

2. Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing;Archives of Oral Biology;2024-02

3. Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients;European Journal of Medical Genetics;2022-10

4. Neutrophil migration defects;Stiehm's Immune Deficiencies;2020

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