(Q52086009)

21 April 2018

title

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. (English)

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21 April 2018

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Christine R Kaneski

4

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author name string

Ehud Goldin

1

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21 April 2018

Stefanie Stahl

2

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21 April 2018

Adele M Cooney

3

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21 April 2018

Surya Gupta

5

1 reference

21 April 2018

Roscoe O Brady

6

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21 April 2018

James R Ellis

7

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21 April 2018

Raphael Schiffmann

8

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21 April 2018

publication date

1 December 2004

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21 April 2018

published in

Human Mutation

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21 April 2018

volume

24

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21 April 2018

issue

6

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21 April 2018

page(s)

460-465

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21 April 2018

Mucolipidosis type IV: characteristic MRI findings.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

Repeated, recent and diverse transfers of a mitochondrial gene to the nucleus in flowering plants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Evolution of mitochondrial gene content: gene loss and transfer to the nucleus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

The neurogenetics of mucolipidosis type IV

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Prediction of complete gene structures in human genomic DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Evolutionary dynamics of large numts in the human genome: rarity of independent insertions and abundance of post-insertion duplications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Multi-copy nuclear pseudogenes of mitochondrial DNA reveal recent acute genetic changes in the human genome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Gene transfer from organelles to the nucleus: frequent and in big chunks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

The Human Genome Project Reveals a Continuous Transfer of Large Mitochondrial Fragments to the Nucleus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Constitutive achlorhydria in mucolipidosis type IV

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Information content of individual genetic sequences.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20094

7 January 2021

Identifiers

DOI

10.1002/HUMU.20094

1 reference

21 April 2018

PubMed ID

15523648

1 reference

21 April 2018