(Q44595795)

English

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination

scientific article published on December 1, 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

maple syrup urine disease

1 reference

based on heuristic

inferred from title

long interspersed nuclear element

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508502

14 March 2024

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508502

14 March 2024

genetic carrier screening

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508502

14 March 2024

Oceanic ancestry group

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508502

14 March 2024

1 reference

10.1038/SJ.EJHG.5201069

https://api.crossref.org/works/10.1038/SJ.EJHG.5201069

14 March 2024

author name string

Ching-Shiang Chi

1

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Chi-Ren Tsai

2

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Liang-Hui Chen

3

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Hsiu-Fen Lee

4

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Betty Suk-Chun Mak

5

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Shu-Hsuang Yang

6

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Tsai-Yuh Wang

7

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

San-Ging Shu

8

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Chao-Hui Chen

9

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14508502

14 March 2024

publication date

1 December 2003

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

full work available at URL

https://www.nature.com/articles/5201069.pdf

Portable Document Format

online access status

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508502

14 March 2024

http://www.nature.com/articles/5201069.pdf

Portable Document Format

1 reference

10.1038/SJ.EJHG.5201069

https://api.crossref.org/works/10.1038/SJ.EJHG.5201069

14 March 2024

http://www.nature.com/articles/5201069

1 reference

10.1038/SJ.EJHG.5201069

https://api.crossref.org/works/10.1038/SJ.EJHG.5201069

14 March 2024

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

931-936

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201069

0 references

Gene preference in maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Alu-associated interstitial deletions and chromosomal re-arrangement in 2 human multidrug-resistant cell lines

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Nucleotide sequence preference at rat liver and wheat germ type 1 DNA topoisomerase breakage sites in duplex SV40 DNA

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Dysfunction of chromosomal loop attachment sites: illegitimate recombination linked to matrix association regions and topoisomerase II.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Rare etiology of autosomal recessive disease in a child with noncarrier parents

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Identification of a novel AU-Rich element in the 3' untranslated region of epidermal growth factor receptor mRNA that is the target for regulated RNA-binding proteins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Biology of mammalian L1 retrotransposons

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Homology-associated nonhomologous recombination in mammalian gene targeting.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Heterogeneity of Taiwan's indigenous population: possible relation to prehistoric Mongoloid dispersals

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

21 January 2018

Fatal connections: when DNA ends meet on the nuclear matrix.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201069

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular Biology and Medicine

12

8

49

author name string

DT Chuang

publication date

1991

1 reference

10.1038/SJ.EJHG.5201069

https://api.crossref.org/works/10.1038/SJ.EJHG.5201069

14 March 2024

Identifiers

10.1038/SJ.EJHG.5201069

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

ResearchGate publication ID

0 references

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