Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene

Journal of Investigative Dermatology

Volumn 113, Issue 1, 1999, Pages 87-92

  Wang, Xiuhua ^a   Yang, Lin ^a   Kurtz, Lisa ^b   Lichtin, Alan ^c   DeLeo, Vincent A ^a   Bloomer, Joseph ^b   Poh Fitzpatrick, Maureen B ^a,d  

^a Columbia Univ Coll of Phys and S ^*  (United States)

^b UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^c LERNER RESEARCH INSTITUTE   (United States)

^d NONE   (United States)

Author keywords

Haplotype analysis; Hotspot mutations; Porphyrias; Splicing mutations

Indexed keywords

FERROCHELATASE; HEME;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; INHERITANCE; MALE; PRIORITY JOURNAL;

EID: 0032775803     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00637.x     Document Type: Article

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