Phenotype-Genotype correlations and estimated carrier frequencies of primary hyperoxaluria

Journal of the American Society of Nephrology

Volumn 26, Issue 10, 2015, Pages 2559-2570

  Hopp, Katharina ^a   Cogal, Andrea G ^a   Bergstralh, Eric J ^a   Seide, Barbara M ^a   Olson, Julie B ^a   Meek, Alicia M ^a   Lieske, John C ^a   Milliner, Dawn S ^a,b   Harris, Peter C ^a   Langman, Craig ^c   Copelvitch, Lawrence ^d   Frishberg, Yaacov ^e   Edvardsson, Vidar ^f   Goldfarb, David ^g   Assimos, Dean ^h   Lowther, Todd ⁱ  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e SHAARE ZEDEK MEDICAL CENTER   (Israel)

^f LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^g NEW YORK UNIVERSITY   (United States)

^h UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

ⁱ WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXY 2 OXOGLUTERATE ALDOLASE; ALANINE GLYOXYLATE AMINOTRANSFERASE; GLYCOLIC ACID; GLYOXYLATE REDUCTASE; HYDROXYPYRUVATE REDUCTASE; MITOCHONDRIAL ENZYME; OXALIC ACID; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL EVALUATION; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; END STAGE RENAL DISEASE; EXOME; FAMILY ASSESSMENT; GENE FREQUENCY; GENE TARGETING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KIDNEY DISEASE; KIDNEY FUNCTION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOLECULAR BIOLOGY; OXALOSIS 1; POPULATION; PREVALENCE; PRIORITY JOURNAL; AGED; GENETIC ASSOCIATION STUDY; GENETICS; HETEROZYGOTE; INFANT; MIDDLE AGED; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; HYPEROXALURIA, PRIMARY; INFANT; MIDDLE AGED; YOUNG ADULT;

EID: 84942879171     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2014070698     Document Type: Article

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