Associated Papers
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
Susani L et al.
Human Mutation, 2004
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.
Souraty N et al.
European Journal of Medical Genetics, 0
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