Identification of a recurrent mutation in the Protoporphyrinogen oxidase gene in swiss patients with variegate porphyria: Clinical and genetic implications

Cellular and Molecular Biology

Volumn 55, Issue 2, 2009, Pages 96-101

  Van Tuyll Van Serooskerken, Anne Moniek ^a,b   Schneider Yin, X ^c   Schimmel, R J ^d   Bladergroen, R S ^a,b   Barman, J ^c   Poblete Gutierrez P ^a,b   Van Geel, M ^a,b   Frank, J ^a,b   Minder, E I ^c  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c Zentrallabor and Swiss Porphyrin Reference Laboratory   (Switzerland)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Founder mutation; Haplotyping; Porphyria; Protoporphyrinogen oxidase gene; Recurrent mutation; Switzerland; Variegate porphyria

Indexed keywords

PROTOPORPHYRINOGEN OXIDASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; PORPHYRIA VARIEGATA; PREVALENCE; SWITZERLAND;

DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; HAPLOTYPES; HUMANS; PORPHYRIA, VARIEGATE; PREVALENCE; PROTOPORPHYRINOGEN OXIDASE; SWITZERLAND;

EID: 68549113168     PISSN: 01455680     EISSN: 1165158X     Source Type: Journal    
DOI: 10.1170/T858     Document Type: Article

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