(Q35801782)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

Marco Cicardi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

V H Donaldson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

P A Gatenby

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

F S Rosen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A L Sheffer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A E Davis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 September 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

9622-9625

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

28 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

The CpG dinucleotide and human genetic disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

27 July 2018

Unusual DNA structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

The chemistry and biology of unusual DNA structures adopted by oligopurine.oligopyrimidine sequences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Formation of DNA triplexes accounts for arrests of DNA synthesis at d(TC)n and d(GA)n tracts

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

An in vitro approach to identifying specificity determinants of mutagenesis mediated by DNA misalignments

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Recombinational biases in the rearranged C1-inhibitor genes of hereditary angioedema patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

The mechanism of Z alpha 1-antitrypsin accumulation in the liver

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Triplet repeat mutations in human disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

DNA structure, mutations, and human genetic disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=44865

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema

27 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7937817

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.91.20.9622

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7937817%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference