Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

European Journal of Haematology

Volumn 76, Issue 1, 2006, Pages 33-41

  Furuyama, Kazumichi ^a   Harigae, Hideo ^a   Heller, Tom ^b   Hamel, Ben C J ^c   Minder, Elisabeth I ^d   Shimizu, Toru ^a   Kuribara, Tadao ^a   Blijlevens, Nicole ^c   Shibahara, Shigeki ^a   Sassa, Shigeru ^e  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Department of Surgery   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d TRIEMLI HOSPITAL   (Switzerland)

^e ROCKEFELLER UNIVERSITY   (United States)

Author keywords

5 aminolaevulinate synthase; Genetic disorders; Sideroblastic anaemia; X linked inheritance

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; ARGININE; CYSTINE; HISTIDINE; MUTANT PROTEIN; ALAS2 PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BONE MARROW; CASE REPORT; ENZYME ACTIVITY; ERYTHROID CELL; GENE EXPRESSION; GENE MUTATION; HUMAN; IN VITRO STUDY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; WILD TYPE; X LINKED SIDEROBLASTIC ANEMIA; ANTIBODY SPECIFICITY; ENZYMOLOGY; ERYTHROCYTE; GENETIC LINKAGE; GENETICS; METABOLISM; POINT MUTATION; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKED DISORDER;

5-AMINOLEVULINATE SYNTHETASE; AMINO ACID SUBSTITUTION; ANEMIA, SIDEROBLASTIC; ARGININE; BONE MARROW; ERYTHROCYTES; GENETIC DISEASES, X-LINKED; LINKAGE (GENETICS); ORGAN SPECIFICITY; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 33644876018     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2005.00541.x     Document Type: Article

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