文献
J-GLOBAL ID:201202298199210595
整理番号:12A0226598
精神遅滞および橋と小脳の低形成による小頭症(MICPCH)のある患者における新たな遺伝子間重複とCASKの変異
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
著者 (11件):
HAYASHI Shin
(Tokyo Medical and Dental Univ., Dep. of Molecular Cytogenetics, Medical Res. Inst. and School of Biomedical Sci. ...)
,
HAYASHI Shin
(Hard Tissue Genome Res. Center, Tokyo Medical and Dental Univ., Tokyo, JPN)
,
OKAMOTO Nobuhiko
(Osaka Medical Center and Res. Inst. for Maternal and Child Health, Dep. of Planning and Res., Osaka, JPN)
,
CHINEN Yasutsugu
(Univ. of the Ryukyu School of Medicine, Dep. of Pediatrics, Okinawa, JPN)
,
TAKANASHI Jun-Ichi
(Kameda Medical Center, Dep. of Pediatrics, Chiba, JPN)
,
MAKITA Yoshio
(Education Center, Asahikawa Medical Coll., Asahikawa, JPN)
,
HATA Akira
(Chiba Univ. Graduate School of Medicine, Dep. of Public Health, Chiba, JPN)
,
IMOTO Issei
(Tokyo Medical and Dental Univ., Dep. of Molecular Cytogenetics, Medical Res. Inst. and School of Biomedical Sci. ...)
,
IMOTO Issei
(The Univ. of Tokushima, Dep. of Human Genetics and Public Health Graduate School of Medical Sci., Tokushima, JPN)
,
INAZAWA Johji
(Tokyo Medical and Dental Univ., Dep. of Molecular Cytogenetics, Medical Res. Inst. and School of Biomedical Sci. ...)
,
INAZAWA Johji
(Tokyo Medical and Dental Univ., Global Center of Excellence (GCOE) Program for ‘International Res. Center for ...)
資料名:
Human Genetics
(Human Genetics)
巻:
131
号:
1
ページ:
99-110
発行年:
2012年01月
JST資料番号:
E0781B
ISSN:
0340-6717
CODEN:
HUGEDQ
資料種別:
逐次刊行物 (A)
発行国:
ドイツ (DEU)
言語:
英語 (EN)