Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele

American Journal of Human Genetics

Volumn 58, Issue 2, 1996, Pages 292-299

  Gouya, L ^a   Deybach, J Ch ^a   Lamoril, J ^a   Da Silva, V ^a   Beaumont, C ^b   Grandchamp, B ^b   Nordmann, Y ^a  

^a HÔPITAL LOUIS MOURIER   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FERROCHELATASE; HEME; MESOPORPHYRIN; MESSENGER RNA; RIBONUCLEASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; ENZYME ACTIVITY; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; FLUOROMETRY; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0030067853     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Alloisio N, Mori L, Marchai J, Roux AF, Ducluzeau MT, Guetarni D, Pothier B (1991) Spαv/41: a common spectrin polymorphism at the αIV-αV domain junction. J Clin Invest 87:2169-2177
2. Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA, Dailey HA (1992) A molecular defect in human protoporphyria. Am J Hum Genet 50:1203-1210
3. Byers PH (1989) Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th ed. McGraw-Hill, New York, pp 2805-2842
4. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenyl-chlorophorm extraction. Anal Biochem 162:156-159
5. Deybach JC, Da Suva V, Pasquier Y, Nordmann Y (1986) Ferrochelatase in human erythropoietic protoporphyria: the first case of a homozygous form of the enzyme deficiency. In: Nordmann Y (ed) Porphyrines and porphyries. John Libbey, Paris, pp 163-173