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The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation
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stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
title
The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
Tay-Sachs disease
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inferred from title
author name string
Boles DJ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
Proia RL
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
language of work or name
English
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publication date
1 March 1995
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
56
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
716-724
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts
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28 September 2017
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28 September 2017
Reduced mRNA and a nonsense mutation in the insulin-receptor gene produce heritable severe insulin resistance
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28 September 2017
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30 May 2018
Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments
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30 May 2018
A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase
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28 November 2018
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28 November 2018
The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum
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CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/7887427
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12 December 2020
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Nonsense mutations and diminished mRNA levels
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7887427
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1801160
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed publication ID
7887427
1 reference
stated in
Europe PubMed Central
PMC publication ID
1801160
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7887427%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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