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A de novo Alu insertion results in neurofibromatosis type 1
scientific article
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instance of
scholarly article
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title
A de novo Alu insertion results in neurofibromatosis type 1
(English)
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main subject
cell line
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author name string
M R Wallace
series ordinal
1
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L B Andersen
series ordinal
2
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A M Saulino
series ordinal
3
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P E Gregory
series ordinal
4
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T W Glover
series ordinal
5
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F S Collins
series ordinal
6
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language of work or name
English
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publication date
31 October 1991
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published in
Nature
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volume
353
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page(s)
864-6
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issue
6347
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describes a project that uses
GM11601
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cites work
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Integration site preferences of the Alu family and similar repetitive DNA sequences.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Paternal origin of new mutations in von Recklinghausen neurofibromatosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A transpositionally and transcriptionally competent Alu subfamily
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recently transposed Alu repeats result from multiple source genes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A human-specific subfamily of Alu sequences.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amplification dynamics of human-specific (HS) alu family members
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence conservation in Alu evolution.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reconstruction and analysis of human alu genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F353864A0
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/353864A0
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1803841
Dimensions Publication ID
1023884249
0 references
OpenCitations bibliographic resource ID
1803841
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1803841
PubMed ID
1719426
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
1803841
ResearchGate publication ID
21437209
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Springer Nature article ID
10.1038/353864a0
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