Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Naixiang Zhai

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

Related publications

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

Genetics and Molecular Research

Molecular Biology

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

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

English

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

Molecular and Cellular Proteomics

Analytical Chemistry

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

A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English

A Second Leaky Splice-Site Mutation in the Spastin Gene

American Journal of Human Genetics

English

Donor Splice Site Mutation in the Apolipoprotein (Apo) C-Ii Gene (Apo C-IIHamburg) of a Patient With Apo C-Ii Deficiency.

Journal of Clinical Investigation

English

Corrigendum: Sarcoidosis Is Associated With a Truncating Splice Site Mutation in the Gene BTNL2

Nature Genetics

English