Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family

American Journal of Medical Genetics

Volumn 80, Issue 3, 1998, Pages 204-206

  Susa, Shinji ^a   Daimon, Makoto ^a   Kondo, Hiroshi ^b   Kondo, Masao ^c   Yamatani, Keiichi ^a   Sasaki, Hideo ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b Niigata National Hospital   (Japan)

^c NATIONAL INSTITUTE OF PUBLIC HEALTH   (Japan)

Author keywords

Coproporphyrinogen oxidase; Gene mutation; Hereditary coproporphyria; Mitochondrial targeting; Presequence

Indexed keywords

COPROPORPHYRINOGEN OXIDASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ENZYME DEFICIENCY; GENE MUTATION; GENE SEQUENCE; HUMAN; POLYMERASE CHAIN REACTION; PORPHYRIA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TRANSLATION INITIATION;

ADULT; ANIMALS; CODON, INITIATOR; COPROPORPHYRINOGEN OXIDASE; FEMALE; HUMANS; JAPAN; MALE; MICE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIAS, HEPATIC;

EID: 0031786793     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981116)80:3<204::AID-AJMG4>3.0.CO;2-G     Document Type: Article

References (15)

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