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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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Bibliographische Detailangaben
Zeitschriftentitel: 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
Sprache: Englisch
veröffentlicht:
The Endocrine Society
Schlagwörter:
author_facet 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
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
author 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
spellingShingle 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
The Journal of Clinical Endocrinology & Metabolism
Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
Biochemistry (medical)
Clinical Biochemistry
Endocrinology
Biochemistry
Endocrinology, Diabetes and Metabolism
author_sort parajes, silvia
spelling 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 0021-972X 1945-7197 The Endocrine Society Biochemistry (medical) Clinical Biochemistry Endocrinology Biochemistry Endocrinology, Diabetes and Metabolism http://dx.doi.org/10.1210/jc.2009-0651 Functional Consequences of Seven Novel Mutations in the<i>CYP11B1</i>Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency The Journal of Clinical Endocrinology & Metabolism
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title Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_unstemmed Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_full Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_fullStr Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_full_unstemmed Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_short Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_sort functional consequences of seven novel mutations in the<i>cyp11b1</i>gene: four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
topic Biochemistry (medical)
Clinical Biochemistry
Endocrinology
Biochemistry
Endocrinology, Diabetes and Metabolism
url http://dx.doi.org/10.1210/jc.2009-0651
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author 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
author_facet 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, 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
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spelling 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 0021-972X 1945-7197 The Endocrine Society Biochemistry (medical) Clinical Biochemistry Endocrinology Biochemistry Endocrinology, Diabetes and Metabolism http://dx.doi.org/10.1210/jc.2009-0651 Functional Consequences of Seven Novel Mutations in the<i>CYP11B1</i>Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency The Journal of Clinical Endocrinology & Metabolism
spellingShingle 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, The Journal of Clinical Endocrinology & Metabolism, Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency, Biochemistry (medical), Clinical Biochemistry, Endocrinology, Biochemistry, Endocrinology, Diabetes and Metabolism
title Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_full Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_fullStr Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_full_unstemmed Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_short Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
title_sort functional consequences of seven novel mutations in the<i>cyp11b1</i>gene: four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
title_unstemmed Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency
topic Biochemistry (medical), Clinical Biochemistry, Endocrinology, Biochemistry, Endocrinology, Diabetes and Metabolism
url http://dx.doi.org/10.1210/jc.2009-0651