文献
J-GLOBAL ID:201902234922535094
整理番号:19A2744042
AP1B1における劣性変異は魚鱗症,難聴および光恐怖症を引き起こす【JST・京大機械翻訳】
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
著者 (17件):
Boyden Lynn M.
(Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Atzmony Lihi
(Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Atzmony Lihi
(Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel)
,
Hamilton Claire
(Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Zhou Jing
(Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Lim Young H.
(Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Hu Ronghua
(Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Pappas John
(Department of Pediatrics, New York University School of Medicine, New York, NY 10016, USA)
,
Rabin Rachel
(Department of Pediatrics, New York University School of Medicine, New York, NY 10016, USA)
,
Ekstien Joseph
(Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY 11211, USA)
,
Hirsch Yoel
(Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY 11211, USA)
,
Prendiville Julie
(Department of Pediatrics, Sidra Medical and Research Center, Doha, Qatar)
,
Lifton Richard P.
(Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Ferguson Shawn
(Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Choate Keith A.
(Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Choate Keith A.
(Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA)
,
Choate Keith A.
(Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA)
資料名:
American Journal of Human Genetics
(American Journal of Human Genetics)
巻:
105
号:
5
ページ:
1023-1029
発行年:
2019年
JST資料番号:
B0360B
ISSN:
0002-9297
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
オランダ (NLD)
言語:
英語 (EN)