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English
Two new Gaucher disease mutations
scientific article published on 01 February 1994
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Statements
instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
title
Two new Gaucher disease mutations
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
main subject
Gaucher's disease
1 reference
based on heuristic
inferred from title
author name string
E Beutler
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
T Gelbart
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
publication date
1 February 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
published in
Human Genetics
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
volume
93
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
page(s)
209-210
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
exact match
https://scigraph.springernature.com/pub.10.1007/bf00210614
0 references
cites work
Gaucher disease: new molecular approaches to diagnosis and treatment
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Gaucher disease mutations in non-Jewish patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutations in Jewish patients with Gaucher disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Optimal conditions for directly sequencing double-stranded PCR products with sequenase
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8112750
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1007/BF00210614
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
PubMed ID
8112750
1 reference
stated in
Europe PubMed Central
PubMed ID
8112750
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8112750%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 October 2019
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