(Q24679357)

English

Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

maple syrup urine disease

1 reference

based on heuristic

inferred from title

author name string

W J Herring

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

S Litwer

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

J L Weber

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

D J Danner

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

language of work or name

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publication date

1 February 1991

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

48

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

342-350

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

7 April 2017

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

7 April 2017

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

7 April 2017

Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

7 April 2017

Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

7 April 2017

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

28 September 2017

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

28 September 2017

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

28 September 2017

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

28 September 2017

Dinucleotide repeat polymorphism at the D1S102 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

28 September 2017

Inhibition of branched-chain alpha-keto acid dehydrogenase kinase by alpha-chloroisocaproate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

30 May 2018

Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683011

30 May 2018

The cytosolic factor required for import of precursors of mitochondrial proteins into mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene for lipoamide dehydrogenase maps to human chromosome 7

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and quantitative preparation of cytoplasmic RNA from small numbers of cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lowry determination of protein in the presence of Triton X-100

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

38 Synthesis and intracellular transport of mitochondrial matrix proteins in rat liver: studies in vivo and in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A synthetic signal peptide blocks import of precursor proteins destined for the mitochondrial inner membrane or matrix

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of dietary protein intake on branched-chain keto acid dehydrogenase activity of the rat. Immunochemical analysis of the enzyme complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/1990841

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1990841%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

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