TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA-Reference-Cited by-同舟云学术

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA

Published:2004 Issue:3 Volume:24 Page:225-235
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Susani Lucia,Pangrazio Alessandra,Sobacchi Cristina,Taranta Anna,Mortier Geert,Savarirayan Ravi,Villa Anna,Orchard Paul,Vezzoni Paolo,Albertini Alberto,Frattini Annalisa,Pagani Franco

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis

2. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

3. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene

4. Standardizing mutation nomenclature: Why bother?

5. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

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