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Three novel aniridia mutations in the human PAX6 gene
scientific article
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instance of
scholarly article
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title
Three novel aniridia mutations in the human PAX6 gene
(English)
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main subject
aniridia
1 reference
based on heuristic
inferred from title
paired box 6
1 reference
stated in
GOA release 2020-03-11
cornea development in camera-type eye
1 reference
stated in
GOA release 2020-03-11
author name string
A Martha
series ordinal
1
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L C Strong
series ordinal
2
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R E Ferrell
series ordinal
3
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G F Saunders
series ordinal
4
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language of work or name
English
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publication date
1995
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published in
Human Mutation
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volume
6
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issue
1
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page(s)
44-9
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cites work
Mutations in the PAX6 gene in patients with hereditary aniridia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PAX6 mutations in aniridia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The human PAX6 gene is mutated in two patients with aniridia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense mutation in the homeobox region of the aniridia gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detecting single base substitutions as heteroduplex polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380060109
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380060109
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PubMed ID
7550230
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