Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection

Journal of the European Academy of Dermatology and Venereology

Volumn 20, Issue 8, 2006, Pages 974-979

  Lecha, M ^a   Badenas, C ^a   Puig, S ^a   Orfila, J ^b   Mila M ^a   To figueras, J ^a   Munoz C ^a   Mercader, P ^c   Herrero, C ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL DE MANACOR   (Spain)

^c Hospital General de Valencia   (Spain)

Author keywords

Carriers; Inheritance; Mutation; Variegate porphyria

Indexed keywords

ARGININE; DNA; PORPHYRIN; PROTOPORPHYRINOGEN OXIDASE; THREONINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; BLOOD ANALYSIS; BLOOD SAMPLING; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE TRANSMISSION; DNA DETERMINATION; EXON; FAMILY STUDY; FECES ANALYSIS; FEMALE; FLUORESCENCE ANALYSIS; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PORPHYRIA VARIEGATA; PRIORITY JOURNAL; QUESTIONNAIRE; RELIABILITY; SENSITIVITY ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

ADULT; EXONS; FAMILY; FEMALE; GENETIC SCREENING; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIA, VARIEGATE; PROTOPORPHYRINOGEN OXIDASE; QUESTIONNAIRES; SPAIN;

EID: 33747359322     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2006.01705.x     Document Type: Article

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