Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.

Siji, Annes; Karthik, K N; Pardeshi, Varsha Chhotusing; Hari, P S; Vasudevan, Anil

Siji, Annes; Karthik, K N; Pardeshi, Varsha Chhotusing; Hari, P S; Vasudevan, Anil.

Affiliation

Siji A; Division of Molecular Medicine, St. John's Research Institute, Bangalore, India.
Karthik KN; Division of Molecular Medicine, St. John's Research Institute, Bangalore, India.
Pardeshi VC; Division of Molecular Medicine, St. John's Research Institute, Bangalore, India.
Hari PS; Division of Molecular Medicine, St. John's Research Institute, Bangalore, India.
Vasudevan A; Division of Molecular Medicine, St. John's Research Institute, Bangalore, India. anil.vasudevan@sjri.res.in.

BMC Med Genet ; 19(1): 200, 2018 11 20.

Article in En | MEDLINE | ID: mdl-30458709

Subject(s)

Genetic Testing/methods; Intracellular Signaling Peptides and Proteins/genetics; Membrane Proteins/genetics; Mutation; Nephrotic Syndrome/congenital; Phosphoinositide Phospholipase C/genetics; WT1 Proteins/genetics; Adolescent; Case-Control Studies; Child; Child, Preschool; Drug Resistance/genetics; Female; Gene Expression; High-Throughput Nucleotide Sequencing; Humans; India; Infant; Male; Nephrotic Syndrome/diagnosis; Nephrotic Syndrome/drug therapy; Nephrotic Syndrome/genetics; Phenotype; Severity of Illness Index; Steroids/therapeutic use

Key words

Indian population; NGS; SRNS; Targeted re-sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Testing / WT1 Proteins / Intracellular Signaling Peptides and Proteins / Phosphoinositide Phospholipase C / Membrane Proteins / Mutation / Nephrotic Syndrome Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: India Country of publication: United kingdom

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