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Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
title
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
main subject
hemophilia
0 references
hemophilia B
0 references
author
Cathryn Lewis
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
author name string
P M Green
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
S Saad
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
F Giannelli
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
language of work or name
English
0 references
publication date
1 December 1999
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
volume
65
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
page(s)
1572-1579
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
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PubMed Central
reference URL
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Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage
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Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation
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PubMed Central
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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
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28 July 2018
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Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
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Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.
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28 July 2018
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden
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28 July 2018
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PubMed Central
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28 July 2018
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28 October 2018
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367
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28 October 2018
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288367
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10577910
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based on heuristic
inferred from PubMed ID database lookup
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10577910
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Haplotype analysis of identical factor IX mutants using PCR
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10577910
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1086/302651
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
PMCID
1288367
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
PubMed ID
10577910
1 reference
stated in
Europe PubMed Central
PMCID
1288367
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10577910%20AND%20SRC:MED&resulttype=core&format=json
retrieved
2 November 2019
ResearchGate publication ID
12723165
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