Familial porphyria cutanea tarda: Characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1363-1375

  Mendez, Manuel ^a,b   Sorkin, Lonnie ^a   Rossetti, Maria Victoria ^a,b   Astrin, Kenneth H ^a   Del C Batlle, Alcira M ^b   Parera, Victoria E ^b   Aizencang, Gerardo ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE INSERTION; GENE INSERTION SEQUENCE; GENE SEQUENCE; HUMAN; HUMAN TISSUE; IRON OVERLOAD; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PORPHYRIA CUTANEA TARDA; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0032231331     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302119     Document Type: Article

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