Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis

Journal of the American Society of Nephrology

Volumn 18, Issue 6, 2007, Pages 1905-1914

  Monico, Carla G ^a   Rossetti, Sandro ^b   Schwanz, Heidi A ^d   Olson, Julie B ^a   Lundquist, Patrick A ^c   Dawson, D Brian ^c   Harris, Peter C ^b   Milliner, Dawn S ^a  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c Mayo Clinic   (United States)

^d LUTHER COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DNA POLYMORPHISM; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HUMAN; HYPEROXALURIA; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; UNTRANSLATED REGION;

EID: 34249874881     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1681/ASN.2006111230     Document Type: Article

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