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Publications by A.M.S. Perrone

A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta

Genetics and Molecular Research

Molecular Biology

English

Related publications

Splice Receptor-Site Mutation C.697-2a>g of the COL1A1 Gene in a Chinese Family With Osteogenesis Imperfecta

Intractable and Rare Diseases Research

English

Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene

Genetics and Molecular Research

Molecular Biology

English

A Novel De Novo COL1A1 Mutation in a Thai Boy With Osteogenesis Imperfecta Born to Consanguineous Parents

Genetics and Molecular Biology

Molecular Biology

English

Heterozygous Mutation of C.3521C>T in COL1A1 May Cause Mild Osteogenesis Imperfecta/Ehlers-Danlos Syndrome in a Chinese Family

Intractable and Rare Diseases Research

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Structural Models of Osteogenesis Imperfecta-Associated Variants in the COL1A1 Gene

Molecular and Cellular Proteomics

Analytical Chemistry

Molecular Biology

English

Alternative Splicing Caused by a Large Deletion in Col1a1 Gene Is Responsible for a Severe Case of Osteogenesis Imperfecta Type Iii. † 853

Pediatric Research

English

Mitral Valve Replacement in a Patient With Osteogenesis Imperfecta

Nihon Gekakei Rengo Gakkaishi (Journal of Japanese College of Surgeons)

English

Identification of a Novel Splicing Mutation in the SLC25A13 Gene From a Patient With NICCD: A Case Report

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English