(Q54547594)

31 May 2018

title

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. (English)

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31 May 2018

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Lorena Gallego

4

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author name string

Belén Pérez

1

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31 May 2018

Julián Nevado

2

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31 May 2018

Pablo Lapunzina

3

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31 May 2018

Celia Pérez-Cerdá

5

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31 May 2018

Begoña Merinero

6

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31 May 2018

Magdalena Ugarte

7

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Lourdes R Desviat

8

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31 May 2018

publication date

7 November 2011

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31 May 2018

Molecular Genetics and Metabolism

published in

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31 May 2018

volume

105

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31 May 2018

issue

2

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31 May 2018

page(s)

270-271

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31 May 2018

Complex and segmental uniparental disomy updated

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

A rapid microarray based whole genome analysis for detection of uniparental disomy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.10.019

10.1016/J.YMGME.2011.10.019

7 January 2021

Identifiers

DOI

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31 May 2018

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31 May 2018