A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan

Gene

Volumn 502, Issue 2, 2012, Pages 133-137

  Abid, Aiysha ^a   Khaliq, Shagufta ^a,b   Shahid, Saba ^a   Lanewala, Ali ^a   Mubarak, Mohammad ^a   Hashmi, Seema ^a   Kazi, Javed ^a   Masood, Tahir ^c   Hafeez, Farkhanda ^c   Naqvi, Syed Ali Anwar ^a   Rizvi, Syed Adeebul Hasan ^a   Mehdi, Syed Qasim ^a  

^a SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION   (Pakistan)

^b UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^c CHILDREN S HOSPITAL   (Pakistan)

Author keywords

Congenital nephrotic syndrome; Focal segmental glomerulosclerosis; NPHS1; NPHS2; Podocyte; Steroid resistant nephrotic syndrome

Indexed keywords

NEPHRIN; PODOCIN;

ADOLESCENT; ARTICLE; CHILD; CHILDHOOD DISEASE; COHORT ANALYSIS; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC SUSCEPTIBILITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; NEPHROTIC SYNDROME; NEWBORN; PAKISTAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ASIA; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; PAKISTAN;

EID: 84861341066     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.04.063     Document Type: Article

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