Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Author：                    

Publisher： Spandidos Publications

E-ISSN： 1791-244X|35|6|1554-1560

ISSN： 1107-3756

Source： International Journal of Molecular Medicine, Vol.35, Iss.6, 2015-01, pp. : 1554-1560

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Large deletions identified in patients with von Willebrand disease using multiple ligation‐dependent probe amplification

By  

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol. 9, Iss. 5, 2011-05 ,pp. : 1083-1086

John Wiley & Sons Inc

Access to resources Recommend Favorite

Overexpression and gene amplification of both ERBB2 and EGFR in an esophageal squamous cell carcinoma revealed by fluorescence in situ hybridization, multiplex ligation‐dependent probe amplification and immunohistochemistry

By  

PATHOLOGY INTERNATIONAL, Vol. 65, Iss. 11, 2015-11 ,pp. : 608-613

John Wiley & Sons Inc

Access to resources Recommend Favorite

Analysis of mouse conceptuses with uniparental duplication/deficiency for distal chromosome 12: comparison with chromosome 12 uniparental disomy and implications for genomic imprinting

By  

Cytogenetic and Genome Research, Vol. 113, Iss. 1-4, 2006-03 ,pp. : 215-222

Karger

Access to resources Recommend Favorite

Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking

By  

Cytogenetic and Genome Research, Vol. 152, Iss. 1, 2017-06 ,pp. : 1-8

Karger

Access to resources Recommend Favorite

Paternal Uniparental Disomy of Chromosome 14 with Hypospadias

By  

Cytogenetic and Genome Research, Vol. 148, Iss. 4, 2016-06 ,pp. : 256-261

Karger

Access to resources Recommend Favorite