Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia (Q28478331)

1

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author name string

Bernhard Dick

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Núria Camats

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Mónica Fernández-Cancio

5

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María Clemente

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Miquel Gussinyé

7

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Antonio Carrascosa

8

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Primus E Mullis

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Laura Audi

Creative Commons Attribution 4.0 International

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language of work or name

English

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publication date

2011

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published in

PLOS One

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volume

6

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page(s)

e20178

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issue

5

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copyright license

start time

27 May 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

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Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

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Insights into steroidogenic acute regulatory protein (StAR)-dependent cholesterol transfer in mitochondria: evidence from molecular modeling and structure-based thermodynamics supporting the existence of partially unfolded states of StAR.

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A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

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12 December 2020

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Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

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