Art
J-GLOBAL ID：200902129366754975
Reference number：00A0250368
Mutations of the WASP Gene in 10 Japanese Patients With Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia.
Wiskott-Aldrich症候群およびX染色体性血小板減少症の日本人患者10例におけるWASP遺伝子の突然変異
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Material：
Volume：
71
Issue：
1
Page：
79-83
Publication year：
Jan. 2000
JST Material Number：
F0888A
ISSN：
0925-5710
CODEN：
IJHEEY
Document type：
Article
Article type：
原著論文
Country of issue：
Germany, Federal Republic of (DEU)
Language：
ENGLISH (EN)
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Thesaurus term/Semi thesaurus term
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JST classification (1)：
JST classification
Category name(code) classified by JST.
Hematologic diagnosis
Reference (16)：
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WISKOTT, A. Familiarer, angeborener Morbus Werlhofii?. Monatsschr Kinderheilkd. 1937, 68, 212-216
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ALDRICH, RA. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatr. 1954, 13, 133-139
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SULLIVAN, KE. A multiin-stitutional survey of the Wiskott-Aldrich syndrome. J Pediatr. 1994, 125, 876-885
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DERRY, JMJ. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994, 78, 635-644
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KOLLURI, R. Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum Mol Genet. 1995, 4, 1119-1126
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