文献
J-GLOBAL ID:201702215678613648
整理番号:17A1494957
IDUA遺伝子の新規フレームシフト変異体は血縁イエメン家系におけるムコ多糖症I型の基礎をなす【Powered by NICT】
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree
著者 (14件):
Azab Belal
(Department of Physiology and Biochemistry, School of Medicine, The University of Jordan, Amman 11942, Jordan)
,
Azab Belal
(Department of Medical Laboratory Sciences, School of Science, The University of Jordan, Amman 11942, Jordan)
,
Azab Belal
(Cell Therapy Center, The University of Jordan, Amman 11942, Jordan)
,
Dardas Zain
(Department of Medical Laboratory Sciences, School of Science, The University of Jordan, Amman 11942, Jordan)
,
Dardas Zain
(Cell Therapy Center, The University of Jordan, Amman 11942, Jordan)
,
Dardas Zain
(Department of Medical Laboratory Sciences, Faculty of Applied Medical sciences, Jordan University of Science and Technology, Irbid 22110, Jordan)
,
Hamarsheh Mohannad
(Farah Hospital, Amman 11183, Jordan)
,
Alsalem Mohammad
(Department of Anatomy and Histology, School of Medicine, The University of Jordan, Amman 11942, Jordan)
,
Kilani Zaid
(Farah Hospital, Amman 11183, Jordan)
,
Kilani Farah
(Farah Hospital, Amman 11183, Jordan)
,
Awidi Abdalla
(Cell Therapy Center, The University of Jordan, Amman 11942, Jordan)
,
Awidi Abdalla
(Department of Internal Medicine Hematology and Oncology Unit, The University of Jordan, Amman 11942, Jordan)
,
Jafar Hanan
(Cell Therapy Center, The University of Jordan, Amman 11942, Jordan)
,
Amr Sami
(Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston 02115, USA)
資料名:
Molecular Genetics and Metabolism Reports
(Molecular Genetics and Metabolism Reports)
巻:
12
ページ:
76-79
発行年:
2017年
JST資料番号:
W2993A
ISSN:
2214-4269
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)