Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency

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Serval ID
serval:BIB_F942E003FC24
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Abstract (Abstract): shot summary in a article that contain essentials elements presented during a scientific conference, lecture or from a poster.
Collection
Publications
Institution
UNIL/CHUV
Title
Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency
Title of the conference
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
Author(s)
Meili D., Kralovicova J., Bonafe L., Flori L., Blau N., Vorechovsky B., Thony B.
Address
Lisboa, Portugal, 2-5 September, 2008
ISSN
0141-8955 (Print)
1573-2665 (Online)
Publication state
Published
Issued date
2008
Volume
31
Series
Journal of Inherited Metabolic Disease
Pages
85-85
Language
english
OAI-PMH
oai:serval.unil.ch:BIB_F942E003FC24
DOI
10.1007/s10545-008-9975-0
Web of science
000258656400336
Create date
15/10/2009 8:27
Last modification date
20/08/2019 17:25
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