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English
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene
scientific article published on 01 January 1993
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
title
Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
main subject
oculocutaneous albinism
1 reference
based on heuristic
inferred from title
author name string
Oetting WS
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
King RA
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
publication date
1 January 1993
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
volume
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
page(s)
1-6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
cites work
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of the mouse tyrosinase gene during embryonic development: recapitulation of the temporal regulation in transgenic mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of mammalian pigmentation at the molecular level
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An MboI polymorphism at codon 192 of the human tyrosinase gene is present in Asians and Afrocaribbeans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Minimal pigment: a new type of oculocutaneous albinism.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hairbulb tyrosinase activity in oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mouse tyrosinase promoter is sufficient for expression in melanocytes and in the pigmented epithelium of the retina
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemistry of melanin formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dinucleotide repeat polymorphism at the human tyrosinase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of Mutations in the Copper B Binding Region Associated With Type I (Tyrosinase‐Related) Oculocutaneous Albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular Analysis of an Extended Family with Type IA (Tyrosinase-Negative) Oculocutaneous Albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PCR detection of a Taql polymorphism at the CCAATT box of the human tyrosinase (TYR) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RFLP for TaqI at the human tyrosinase locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RFLP for BgIII at the human tyrosinase (TYR) locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variable expression of vision in sibs with albinism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.1380020102
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.1380020102
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
PubMed publication ID
8477259
1 reference
stated in
Europe PubMed Central
PubMed publication ID
8477259
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8477259%20AND%20SRC:MED&resulttype=core&format=json
retrieved
13 October 2019
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