Congenital erythropoietic porphyria: Report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling

Journal of Investigative Dermatology

Volumn 123, Issue 3, 2004, Pages 589-591

  Ged, Cécile ^a   Mégarbané, Hala ^b   Chouery, Eliane ^c   Lalanne, Magalie ^a   Mégarbané, André ^c   De Verneuil, Hubert ^a  

^a INSERM   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

CEP; DNA studies; Incomplete penetrance; Porphyrins; Uroporphyrinogen III synthase

Indexed keywords

AMINO ACID; PROLINE; PROTEIN; PROTEIN S47P; SERINE; UNCLASSIFIED DRUG; UROPORPHYRINOGEN III SYNTHASE;

AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CLINICAL OBSERVATION; CONGENITAL ERYTHROPOIETIC PORPHYRIA; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FATHER; FEMALE; GENE; GENE ACTIVITY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEALTH STATUS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MOTHER; MUTANT; PATIENT; PRIORITY JOURNAL; PROKARYOTE; SEQUENCE ANALYSIS; SIBLING; UROPORPHYRINOGEN III SYNTHASE GENE;

EID: 4143060433     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23401.x     Document Type: Article

References (9)

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