A novel mutation of the erythroid-specific δ-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia

American Journal of Hematology

Volumn 62, Issue 2, 1999, Pages 112-114

  Harigae, Hideo ^a   Furuyama, Kazumichi ^b   Kudo, Kazuko ^c   Hayashi, Norio ^a   Yamamoto, Masayuki ^d   Sassa, Shigeru ^b   Sasaki, Takeshi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b ROCKEFELLER UNIVERSITY   (United States)

^c NAGOYA UNIVERSITY   (Japan)

^d UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

ALAS; X linked sideroblastic anemia

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; DNA; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE;

ARTICLE; CASE REPORT; CONTROLLED STUDY; EXON; GENE ACTIVITY; GENE MUTATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; ANEMIA, SIDEROBLASTIC; BASE SEQUENCE; BONE MARROW CELLS; ERYTHROCYTES; EXONS; HUMANS; INFANT; JAPAN; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PYRIDOXINE; REFERENCE VALUES;

EID: 0032827236     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199910)62:2<112::AID-AJH9>3.0.CO;2-L     Document Type: Article

References (6)

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