First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice

We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lo...

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Detalles Bibliográficos
Autor principal: Wolf, Barry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789387/
https://www.ncbi.nlm.nih.gov/pubmed/27014582
http://dx.doi.org/10.1016/j.ymgmr.2016.02.006
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author Wolf, Barry
author_facet Wolf, Barry
author_sort Wolf, Barry
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description We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing.
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spelling pubmed-47893872016-03-24 First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice Wolf, Barry Mol Genet Metab Rep Case Report We report the first microdeletion (26 kb) of the biotinidase gene (BTD) that involves three of the four exons of the gene. This deletion further exemplifies the importance of performing microarray analysis or other methodologies for a deletion of the BTD gene when the enzymatic activity indicates lower activity than can be attributed to the mutations identified by DNA sequencing. Elsevier 2016-03-02 /pmc/articles/PMC4789387/ /pubmed/27014582 http://dx.doi.org/10.1016/j.ymgmr.2016.02.006 Text en © 2016 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Wolf, Barry
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
title First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
title_full First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
title_fullStr First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
title_full_unstemmed First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
title_short First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
title_sort first microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: a lesson for clinical practice
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789387/
https://www.ncbi.nlm.nih.gov/pubmed/27014582
http://dx.doi.org/10.1016/j.ymgmr.2016.02.006
work_keys_str_mv AT wolfbarry firstmicrodeletioninvolvingonlythebiotinidasegenethatcancausebiotinidasedeficiencyalessonforclinicalpractice

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