文献
J-GLOBAL ID:201202237408149190
整理番号:12A1692850
ブラハユダヤ人において重度なメチレンテトラヒドロ葉酸レダクターゼ(MTHFR)欠損を引き起こす創始者変異
A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews
著者 (10件):
BEN-SHACHAR Shay
(The Genetic Inst. & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, ISR)
,
ZVI Tal
(The Genetic Inst. & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, ISR)
,
ROLFS Arndt
(Albrecht-Kossel-Institute for Neuroregeneration, Medical Fac., Univ. of Rostock, DEU)
,
ROLFS Arndt
(Centogene GmbH, The Rare Disease Co., Rostock, DEU)
,
BREDA KLOBUS Andrea
(Centogene GmbH, The Rare Disease Co., Rostock, DEU)
,
YARON Yuval
(The Genetic Inst. & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, ISR)
,
YARON Yuval
(Sackler Fac. of Medicine, Tel Aviv Univ., Tel Aviv, ISR)
,
BAR-SHIRA Anat
(The Genetic Inst. & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, ISR)
,
ORR-URTREGER Avi
(The Genetic Inst. & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, ISR)
,
ORR-URTREGER Avi
(Sackler Fac. of Medicine, Tel Aviv Univ., Tel Aviv, ISR)
資料名:
Molecular Genetics and Metabolism
(Molecular Genetics and Metabolism)
巻:
107
号:
3
ページ:
608-610
発行年:
2012年11月
JST資料番号:
E0820A
ISSN:
1096-7192
資料種別:
逐次刊行物 (A)
発行国:
オランダ (NLD)
言語:
英語 (EN)