Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)-Reference-Cited by-同舟云学术

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Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

Published:2015-12 Issue: Volume:417 Page:63-72
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

McCabe Mark J.^ORCID,Hu Youli^ORCID,Gregory Louise C.^ORCID,Gaston-Massuet Carles,Alatzoglou Kyriaki S.,Saldanha José W.,Gualtieri Angelica,Thankamony Ajay,Hughes Ieuan,Townshend Sharron,Martinez-Barbera Juan-Pedro,Bouloux Pierre-Marc,Dattani Mehul T.

Funder

Birth Defect Foundation-Newlife Project

British Society for Paediatric Endocrinology and Diabetes

Great Ormond Street Hospital Children's Charity

Wellcome Trust

National Institute for Health Research

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference45 articles.

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2. The protein data bank;Berman;Nucleic. acids. Res.,2000

3. Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1;Canto;J. Androl.,2009

4. Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome;del Castillo;Nat. Genet.,1992

5. 5′ YRNA fragments derived by processing of transcripts from specific YRNA genes and pseudogenes are abundant in human serum and plasma;Dhahbi;Physiol. Genomics,2013

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