文献
J-GLOBAL ID:201202278074801574
整理番号:12A1668378
皮膚疾患:AAGABのハプロ不全は,臨床的に一律でない病型を示す点状掌蹠角化症を引き起こす
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
著者 (35件):
POHLER Elizabeth
(Univ. Dundee, Dundee, GBR)
,
WILSON Neil J
(Univ. Dundee, Dundee, GBR)
,
SMITH Frances J D
(Univ. Dundee, Dundee, GBR)
,
GOH Christabelle S M
(Univ. Dundee, Dundee, GBR)
,
SANDILANDS Aileen
(Univ. Dundee, Dundee, GBR)
,
COLE Christian
(Univ. Dundee, Dundee, GBR)
,
BROWN Sara J
(Univ. Dundee, Dundee, GBR)
,
MCLEAN W H Irwin
(Univ. Dundee, Dundee, GBR)
,
MAMAI Ons
(Farhat Hached Univ. Hospital, Sousse, TUN)
,
SAAD Ali
(Farhat Hached Univ. Hospital, Sousse, TUN)
,
GRIBAA Moez
(Farhat Hached Univ. Hospital, Sousse, TUN)
,
MAMAI Ons
(Agency for Sci., Technol. and Res. (A*STAR), Singapore)
,
SHBOUL Mohammad
(Agency for Sci., Technol. and Res. (A*STAR), Singapore)
,
TEISSIER Sebastien
(Agency for Sci., Technol. and Res. (A*STAR), Singapore)
,
REVERSADE Bruno
(Agency for Sci., Technol. and Res. (A*STAR), Singapore)
,
HIRST Jennifer
(Univ. Cambridge, Cambridge, GBR)
,
ZAMIRI Mozheh
(Univ. Hospital Crosshouse, Kilmarnock, GBR)
,
HORN Helen
(Royal Infirmary of Edinburgh, Edinburgh, GBR)
,
NOMURA Toshifumi
(Hokkaido Univ. Graduate School of Medicine, Sapporo, JPN)
,
SHIMIZU Hiroshi
(Hokkaido Univ. Graduate School of Medicine, Sapporo, JPN)
,
IRVINE Alan D
(Our Lady’s Children’s Hospital, Dublin, IRL)
,
MORAN Benvon
(Our Lady’s Children’s Hospital, Dublin, IRL)
,
IRVINE Alan D
(Trinity Coll. Dublin, Dublin, IRL)
,
BARTON Geoffrey J
(Univ. Dundee, Dundee, GBR)
,
EVANS Alan T
(Ninewells Hospital and Medical School, Dundee, GBR)
,
AKIYAMA Masashi
(Nagoya Univ. Graduate School of Medicine, Nagoya, JPN)
,
SUEHIRO Mitsuhiro
(Otsu Municipal Hospital, Otsu, JPN)
,
KONOHANA Izumi
(Hiratsuka Municipal Hospital, Hiratsuka, JPN)
,
BOUSSOFARA Lobna
(Farhat Hached Univ. Hospital, Sousse, TUN)
,
DENGUEZLI Mohamed
(Farhat Hached Univ. Hospital, Sousse, TUN)
,
DOPPING-HEPENSTAL Patricia J
(St. Thomas’ Hospital, London, GBR)
,
MCGRATH John A
(King’s Coll. London, London, GBR)
,
GOUDIE David R
(Ninewells Hospital and Medical School, Dundee, GBR)
,
REVERSADE Bruno
(National Univ. Singapore, Singapore)
,
MUNRO Colin S
(Southern General Hospital, Glasgow, GBR)
資料名:
Nature Genetics
(Nature Genetics)
巻:
44
号:
11
ページ:
1272-1276
発行年:
2012年11月
JST資料番号:
W0430A
ISSN:
1061-4036
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)