Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

Human mutation

Volumn 17, Issue 4, 2001, Pages 350-

  Cappellini, M D ^a   Martinez di Montemuros, F ^a   Tavazzi, D ^a   Fargion, S ^a   Pizzuti, A ^a   Comino, A ^a   Cainelli, T ^a   Fiorelli, G ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

UROPORPHYRINOGEN DECARBOXYLASE;

3' UNTRANSLATED REGION; ADULT; AGED; ARTICLE; BLOOD; CATALYSIS; CHEMISTRY; ENZYME STABILITY; ENZYMOLOGY; ERYTHROCYTE; EXON; GENE DELETION; GENETICS; HUMAN; ITALY; MALE; METABOLISM; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; PORPHYRIA CUTANEA TARDA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM;

3' UNTRANSLATED REGIONS; ADULT; AGED; AGED, 80 AND OVER; CATALYSIS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; ERYTHROCYTES; EXONS; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIA CUTANEA TARDA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE DELETION; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 0035316211     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.35     Document Type: Article

References (0)