(Q41634331)

English

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

scientific article published on March 20, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

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 (English)

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%3A1547285

7 October 2022

chromosomal deletion syndrome

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%3A1547285

7 October 2022

author name string

W. J. Herring

1

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%3A1547285

7 October 2022

M. McKean

2

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%3A1547285

7 October 2022

N. Dracopoli

3

0000-0003-3962-4059

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%3A1547285

7 October 2022

D. J. Danner

4

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%3A1547285

7 October 2022

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=1547285

7 October 2022

publication date

1 March 1992

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

20 March 1992

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=1547285

7 October 2022

number of pages

7

1 reference

based on heuristic

inferred from page(s)

Biochimica et Biophysica Acta

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

1138

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

236-242

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

Identifiers

10.1016/0925-4439(92)90043-M

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 October 2017

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