Uroporphyrinogen decarboxylase: Complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria

American Journal of Human Genetics

Volumn 58, Issue 4, 1996, Pages 712-721

  Moran Jimenez, M J ^b   Ged, C ^a   Romana, M ^b   De Enriquez Salamanca, R ^b   Taieb A ^b   Topi, G ^b   D'Alessandro, L ^b   De Verneuil, H ^b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; UROPORPHYRINOGEN DECARBOXYLASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROPOIETIC PROTOPORPHYRIA; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; ITALY; MALE; MISSENSE MUTATION; PORTUGAL; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; SPAIN;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; ERYTHROCYTES; ESCHERICHIA COLI; FEMALE; GENES; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PORPHYRIA CUTANEA TARDA; PREGNANCY; RECOMBINANT FUSION PROTEINS; SEQUENCE ANALYSIS, DNA; UROPORPHYRINOGEN DECARBOXYLASE;

EID: 0029865411     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

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7. Verneuil H de, Hansen J, Picat C, Grandchamp B, Kushner J, Roberts A, Elder G, et al (1988) Prevalence of the 281(Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda. Hum Genet 78:101-102