Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene

Blood

Volumn 90, Issue 2, 1997, Pages 822-830

  Furuyama, Kazumichi ^b   Fujita, Hiroyoshi ^b   Nagai, Tadashi ^b   Yomogida, Kentaro ^b   Munakata, Hiroshi ^b   Kondo, Masao ^b   Kimura, Akiro ^b   Kuramoto, Atsushi ^b   Hayashi, Norio ^b   Yamamoto, Masayuki ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; PYRIDOXINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; GENE ISOLATION; HUMAN; POINT MUTATION; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKAGE;

EID: 0030752517     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.2.822     Document Type: Article

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