Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria

Molecular Medicine

Volumn 19, Issue 1, 2013, Pages 26-35

  Balwani, Manisha ^a   Doheny, Dana ^a   Bishop, David F ^a   Nazarenko, Irina ^a   Yasuda, Makiko ^a   Dailey, Harry A ^b   Anderson, Karl E ^c   Montgomery Bissell, D ^d   Bloomer, Joseph ^e   Bonkovsky, Herbert L ^f   Phillips, John D ^g   Liu, Lawrence ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF GEORGIA   (United States)

^c University of Texas Medical Branch School of Medicine   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e University of Alabama at Birmingham   (United States)

^f CAROLINAS MEDICAL CENTER   (United States)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; FERROCHELATASE; PROTOPORPHYRIN;

ALAS2 GENE; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE PREDISPOSITION; DISEASE SEVERITY; ERYTHROPOIETIC PROTOPORPHYRIA; FECH GENE; FEMALE; GAIN OF FUNCTION MUTATION; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; LIVER DISEASE; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PATIENT COUNSELING; PHENOTYPE; PHOTOSENSITIVITY; PREVALENCE; PRIORITY JOURNAL; SEX DIFFERENCE; WESTERN EUROPE; X CHROMOSOME LINKED DISORDER; X LINKED PROTOPORPHYRIA;

5-AMINOLEVULINATE SYNTHETASE; FEMALE; FERROCHELATASE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; MALE; NORTH AMERICA; PHENOTYPE; PORPHYRIAS, HEPATIC; PREVALENCE;

EID: 84874767138     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2012.00340     Document Type: Article

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