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serval:BIB_4370352767FD
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.
10.1186/1471-2350-15-75
000209592400001
24986124
Rashidi-Nezhad
A.
author
Talebi
S.
author
Saebnouri
H.
author
Akrami
S.M.
author
Reymond
A.
author
article
2014
BMC Medical Genetics
1471-2350
1471-2350
journal
15
75
Abnormalities, Multiple/pathology
Calcinosis/pathology
Carnitine/deficiency
Carnitine/metabolism
Carrier Proteins/genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 11
Comparative Genomic Hybridization
Ear Diseases/pathology
Female
Genome, Human
Homozygote
Humans
Intellectual Disability/pathology
Membrane Proteins/genetics
Muscular Atrophy/pathology
gamma-Butyrobetaine Dioxygenase/genetics
eng
60_published
true
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't, pdf : Case report
https://serval.unil.ch/notice/serval:BIB_4370352767FD
https://serval.unil.ch/resource/serval:BIB_4370352767FD.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4370352767FD2
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