Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

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Opis bibliograficzny

Tytuł czasopisma:	The Journal of Clinical Endocrinology & Metabolism
Personen und Körperschaften:	Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
In:	The Journal of Clinical Endocrinology & Metabolism, 95, 2010, 2, S. 779-788
Format:	E-Article
Język:	Englisch
Wydane:	The Endocrine Society
Hasła przedmiotowe:	Biochemistry (medical) Clinical Biochemistry Endocrinology Biochemistry Endocrinology, Diabetes and Metabolism