文献
J-GLOBAL ID:200902281379337423
整理番号:09A0057780
Marfan症候群患者におけるFBN1シュウドエクソン変異:疾患を生じる潜在的変異の確認
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease
著者 (7件):
GUO Dong-chuan
(Univ. Texas Medical School at Houston, TX, USA)
,
GUPTA Prateek
(Univ. Texas Medical School at Houston, TX, USA)
,
TRAN-FADULU Van
(Univ. Texas Medical School at Houston, TX, USA)
,
GUIDRY Tera V.
(Univ. Texas Medical School at Houston, TX, USA)
,
LEDUC Magalie S.
(Univ. Texas Medical School at Houston, TX, USA)
,
SCHAEFER Frederick V.
(Center for Genetic Testing at Saint Francis, OK, USA)
,
MILEWICZ Dianna M.
(Univ. Texas Medical School at Houston, TX, USA)
資料名:
Journal of Human Genetics
(Journal of Human Genetics)
巻:
53
号:
11/12
ページ:
1007-1011
発行年:
2008年
JST資料番号:
Z0756A
ISSN:
1434-5161
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
イギリス (GBR)
言語:
英語 (EN)