文献
J-GLOBAL ID:201102287494711254
整理番号:11A0682917
CYP11B1遺伝子の新規7変異の機能的影響:3種の変異が引き起こす古典的な11β-ヒドロキシラーゼ欠損症と4種の変異が引き起こす非古典的な11β-ヒドロキシラーゼ欠損症
Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
著者 (20件):
PARAJES Silvia
(Univ. Birmingham, Birmingham, GBR)
,
PARAJES Silvia
(Fundacion Publica Gallega de Medicina Genomica, Santiago de Compostela, ESP)
,
LOIDI Lourdes
(Fundacion Publica Gallega de Medicina Genomica, Santiago de Compostela, ESP)
,
REISCH Nicole
(Univ. Birmingham, Birmingham, GBR)
,
DHIR Vivek
(Univ. Birmingham, Birmingham, GBR)
,
ROSE Ian T.
(Univ. Birmingham, Birmingham, GBR)
,
HAMPEL Rainer
(Univ. Hospital Rostock, Rostock, DEU)
,
QUINKLER Marcus
(Charite Univ. Medicine Berlin, Berlin, DEU)
,
CONWAY Gerard S.
(Univ. Coll. London Hospitals, London, GBR)
,
CASTRO-FEIJOO Lidia
(Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, ESP)
,
ARAUJO-VILAR David
(Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, ESP)
,
POMBO Manuel
(Complejo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, ESP)
,
DOMINGUEZ Fernando
(Fundacion Publica Gallega de Medicina Genomica, Santiago de Compostela, ESP)
,
WILLIAMS Emma L.
(Univ. Coll. London Hospitals, London, GBR)
,
COLE Trevor R.
(Birmingham Women’s Hospital, Birmingham, GBR)
,
KIRK Jeremy M.
(Birmingham Children’s Hospital, Birmingham, GBR)
,
KAMINSKY Elke
(Praxis fuer Humangenetik, Hamburg, DEU)
,
RUMSBY Gill
(Univ. Coll. London Hospitals, London, GBR)
,
ARLT Wiebke
(Univ. Birmingham, Birmingham, GBR)
,
KRONE Nils
(Univ. Birmingham, Birmingham, GBR)
資料名:
Journal of Clinical Endocrinology & Metabolism
(Journal of Clinical Endocrinology & Metabolism)
巻:
95
号:
2
ページ:
779-788
発行年:
2010年02月
JST資料番号:
B0517A
ISSN:
0021-972X
資料種別:
逐次刊行物 (A)
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)