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Publications by A.N. Akel Jr.
Variable Expressivity of Osteogenesis Imperfecta in a Brazilian Family Due to p.G1079S Mutation in the COL1A1 Gene
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
A Novel COL1A1 Gene-Splicing Mutation (C.1875+1G>C) in a Brazilian Patient With Osteogenesis Imperfecta
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
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
Medicine
Structural Models of Osteogenesis Imperfecta-Associated Variants in the COL1A1 Gene
Molecular and Cellular Proteomics
Biochemistry
Medicine
Analytical Chemistry
Molecular Biology
A Novel De Novo COL1A1 Mutation in a Thai Boy With Osteogenesis Imperfecta Born to Consanguineous Parents
Genetics and Molecular Biology
Genetics
Molecular Biology
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
Medicine
Correction To: Novel Mutation G324C in WNT1 Mapped in a Large Pakistani Family With Severe Recessively Inherited Osteogenesis Imperfecta
Journal of Biomedical Science
Cell Biology
Pharmacology
Biochemistry
Endocrinology
Clinical Biochemistry
Molecular Biology
Medicine
Metabolism
Diabetes
Alternative Splicing Caused by a Large Deletion in Col1a1 Gene Is Responsible for a Severe Case of Osteogenesis Imperfecta Type Iii. † 853
Pediatric Research
Child Health
Pediatrics
Perinatology
Frameshift Mutation Near the 3' End of the COL1A1 Gene of Type I Collagen Predicts an Elongated Pro Alpha 1(I) Chain and Results in Osteogenesis Imperfecta Type I.
Journal of Clinical Investigation
Medicine
Osteogenesis Imperfecta
