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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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Zeitschriftentitel: | The Journal of Clinical Endocrinology & Metabolism |
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Personen und Körperschaften: | , , , , , , , , , , , , , , , , , , |
In: | The Journal of Clinical Endocrinology & Metabolism, 95, 2010, 2, S. 779-788 |
Format: | E-Article |
Sprache: | Englisch |
veröffentlicht: |
The Endocrine Society
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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 |
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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 |
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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10.1210/jc.2009-0651 |
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The Endocrine Society, 2010 |
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The Endocrine Society, 2010 |
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The Endocrine Society |
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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 |
publishDate |
2010 |
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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 |