文献
J-GLOBAL ID:201702252804252007
整理番号:17A1973048
CDK5R AP2遺伝子における新規突然変異は血縁パキスタン人家族における言語障害とスパース眉毛による原発性小頭症を引き起こす【Powered by NICT】
A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
著者 (12件):
Abdullah Uzma
(Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan)
,
Farooq Muhammad
(Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark)
,
Farooq Muhammad
(Department of Bioinformatics & Biotechnology, Government College University Faisalabad, Faisalabad 38000, Pakistan)
,
Mang Yuan
(Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark)
,
Marriam Bakhtiar Syeda
(Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan)
,
Fatima Ambrin
(Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan)
,
Hansen Lars
(Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark)
,
Kjaer Klaus Wilbrandt
(Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark)
,
Larsen Lars Allan
(Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark)
,
Faryal Sanam
(Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan)
,
Tommerup Niels
(Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark)
,
Mahmood Baig Shahid
(Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
60
号:
12
ページ:
627-630
発行年:
2017年
JST資料番号:
A1224A
ISSN:
1769-7212
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)