Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

• Main Authors: Ajmal, M, Mir, A, Wahid, S, Khor, C.C, Foo, J.N, Siddiqi, S, Kauser, M, Malik, S.A, Nasir, M
• 其他作者: BIOCHEMISTRY
• 格式: Article
• 出版: 2020
• 主題: DNA; proton transporting adenosine triphosphate synthase; TCIRG1 protein, human; Article; autosomal recessive disorder; autosomal recessive osteopetrosis; bioinformatics; child; clinical article; complex formation; computer model; controlled study; exon; frameshift mutation; gene; gene deletion; genetic association; genetic code; genetic counseling; genetic variation; homozygosity; human; infant; male; mutational analysis; osteolysis; osteoporosis; Pakistani; pathogenesis; phenotype; protein assembly; protein structure; Sanger sequencing; single nucleotide polymorphism; structure activity relation; structure analysis; TCIRG1 gene; V ATPase a3 gene; Albers Schoenberg disease; amino acid sequence; computer simulation; diagnostic imaging; dna mutational analysis; genetics; genotype; homozygote; metabolism; molecular docking; mutation; Pakistan; pathophysiology; physiology; preschool child; Amino Acid Sequence; Bone Resorption; Child, Preschool; Computer Simulation; DNA Mutational Analysis; Exons; Genotype; Homozygote; Humans; Infant; Molecular Docking Simulation; Mutation; Osteopetrosis; Sequence Deletion; Vacuolar Proton-Translocating ATPases
• 在線閱讀: https://scholarbank.nus.edu.sg/handle/10635/181231

10.1186/s12881-017-0506-4