A novel mutation of the erythroid-specific δ-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia

British Journal of Haematology

Volumn 106, Issue 1, 1999, Pages 175-177

  Harigae, Hideo ^a,b   Furuyama, Kazumichi ^a,b   Kimura, Akiro ^c   Nerhshi, Kazuo ^d   Tahara, Nobuyasu ^d   Kondo, Masao ^e   Hayashi, Norio ^a   Yamamoto, Masayuki ^f   Sassa, Shigeru ^b   Sasaki, Takeshi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b ROCKEFELLER UNIVERSITY   (United States)

^c HIROSHIMA UNIVERSITY   (Japan)

^d Tokuyama Central Hospital   (Japan)

^e NATIONAL INSTITUTE OF PUBLIC HEALTH   (Japan)

^f UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

ALAS; X linked sideroblastic anaemia

Indexed keywords

5 AMINOLEVULINATE SYNTHASE;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKED DISORDER;

5-AMINOLEVULINATE SYNTHETASE; ADOLESCENT; ANEMIA, SIDEROBLASTIC; HUMANS; MALE; MUTATION, MISSENSE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0032816661     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01479.x     Document Type: Article

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