Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria

Molecular Medicine

Volumn 19, Issue 1, 2013, Pages 18-25

  Bishop, David F ^a   Tchaikovskii, Vassili ^a   Nazarenko, Irina ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ADENINE; AMINO ACID; CYTOSINE; GUANINE; PROTOPORPHYRIN; SUCCINYL COENZYME A SYNTHETASE; THYMINE;

ALAS2 GENE; ARTICLE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME KINETICS; ENZYME PURIFICATION; ENZYME STABILITY; ERYTHROID CELL; ERYTHROPOIETIC PROTOPORPHYRIA; EXON; GAIN OF FUNCTION MUTATION; GENE DELETION; GENE EXPRESSION; GENETIC ENGINEERING; HUMAN; IN VIVO STUDY; LIVER DISEASE; PHOTOSENSITIVITY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; THERMOSTABILITY; WILD TYPE;

5-AMINOLEVULINATE SYNTHETASE; ENZYME STABILITY; ERYTHROCYTES; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; KINETICS; MALE; MUTATION; PROTOPORPHYRIA, ERYTHROPOIETIC; TEMPERATURE;

EID: 84874782741     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2013.00003     Document Type: Article

References (21)

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