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

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

10.1186/s12881-017-0506-4

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Bibliographic Details
Main Authors:	Ajmal, M, Mir, A, Wahid, S, Khor, C.C, Foo, J.N, Siddiqi, S, Kauser, M, Malik, S.A, Nasir, M
Other Authors:	BIOCHEMISTRY
Format:	Article
Published:	2020
Subjects:	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
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/181231
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Institution:	National University of Singapore

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