A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

Human Genetics

Volumn 97, Issue 5, 1996, Pages 557-560

  Tanigawa, Ken ^a   Bensidhoum, Morad ^b   Takamura, Noboru ^a   Namba, Hiroyuki ^a   Yamashita, Shunichi ^a   De Verneuil, Hubert ^b   Ged, Cécile ^b  

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; PROLINE; SERINE; UROPORPHYRINOGEN III SYNTHASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONGENITAL ERYTHROPOIETIC PORPHYRIA; ENZYME DEFICIENCY; ESCHERICHIA COLI; FEMALE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; JAPAN; MISSENSE MUTATION; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; STOP CODON;

ESCHERICHIA COLI;

EID: 0029876758     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281859     Document Type: Article

References (24)

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