Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD

Pediatric Nephrology

Volumn 30, Issue 2, 2015, Pages 273-279

  Lambie, Lindsay ^a   Amin, Rasheda ^b   Essop, Fahmida ^a   Cnaan, Avital ^b   Krause, Amanda ^a   Guay Woodford, Lisa M ^b,c  

^a UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Afrikaner population; ARPKD; Autosomal recessive polycystic kidney disease; Foundermutation; PKHD1

Indexed keywords

FIBROCYSTIN; CELL SURFACE RECEPTOR; PKHD1 PROTEIN, HUMAN;

ARTICLE; CHILD; FEMALE; GENE MUTATION; GENETIC TRAIT; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; NEWBORN; OVERALL SURVIVAL; PHENOTYPE; PRIORITY JOURNAL; SOUTH AFRICAN; FOUNDER EFFECT; GENETIC PREDISPOSITION; GENETICS; KAPLAN MEIER METHOD; MORTALITY; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SOUTH AFRICA;

AGE OF ONSET; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIER ESTIMATE; MALE; MUTATION; PHENOTYPE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; POLYMERASE CHAIN REACTION; RECEPTORS, CELL SURFACE; SOUTH AFRICA;

EID: 84926662001     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-014-2917-1     Document Type: Article

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