A novel splicing mutation and haplotype analysis of the FECH gene in a Chinese family with erythropoietic protoporphyria

Journal of the European Academy of Dermatology and Venereology

Volumn 24, Issue 6, 2010, Pages 726-729

  Ma, J ^a   Xiao, S ^a   An, J ^a   Wang, X ^a   Xu, Q ^a   Dong, Y ^a   Feng, Y ^a   Wang, J ^a  

^a THE SECOND AFFILIATED HOSPITAL OF XI AN JIAOTONG UNIVERSITY   (China)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Genodermatosis; Mutation analysis; Splicing mutation

Indexed keywords

ADENINE; FERROCHELATASE; GUANINE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHINESE; COHORT ANALYSIS; ERYTHROPOIETIC PROTOPORPHYRIA; FAMILY STUDY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INHERITANCE; MALE; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; RNA SPLICING; SYMPTOM; CASE CONTROL STUDY; CHINA; DNA SEQUENCE; ETHNOLOGY; EXON; FEMALE; GENETICS; MUTATION; PEDIGREE; YOUNG ADULT;

ALLELES; CASE-CONTROL STUDIES; CHINA; COHORT STUDIES; EXONS; FEMALE; FERROCHELATASE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; PROTOPORPHYRIA, ERYTHROPOIETIC; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 77952165775     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2009.03471.x     Document Type: Article

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