Congenital erythropoietic porphyria: Identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

British Journal of Haematology

Volumn 117, Issue 4, 2002, Pages 980-987

  Shady, Amr A ^a   Colby, Brandon R ^a   Cunha, Luis F ^a   Astrin, Kenneth H ^a   Bishop, David F ^a   Desnick, Robert J ^a,b  

^a NEW YORK UNIVERSITY   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital erythropoietic porphyria; Mutation detection; Prokaryotic expression; Uroporphyrinogen I; Uroporphyrinogen III synthase

Indexed keywords

UROPORPHYRINOGEN III SYNTHASE;

ARTICLE; CLINICAL ARTICLE; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; EXON; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THERMOSTABILITY; WILD TYPE;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENE REARRANGEMENT; HETEROZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PORPHYRIA, ERYTHROPOIETIC; UROPORPHYRINOGEN III SYNTHETASE;

EID: 0036280933     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03558.x     Document Type: Article

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