Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/40163
Title: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
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Issue Date: 2018
Citation: Orphanet J Rare Dis.2018 07;(13)1:125
Abstract: Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious. Furthermore some cases remain undiagnosed because no biochemical methods have been available to test for cobalamin absorption and transport defects.
PMID: 30041674
URI: https://hdl.handle.net/20.500.12530/40163
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos
Hospitales > H. U. La Paz > Artículos

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