Analysis of Mutations in the Copper B Binding Region Associated With Type I (Tyrosinase‐Related) Oculocutaneous Albinism (Q67475802)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

13 September 2019

title

Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

13 September 2019

Analysis of Mutations in the Copper B Binding Region Associated With Type I (Tyrosinase‐Related) Oculocutaneous Albinism (English)

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

27 November 2023

main subject

oculocutaneous albinism

1 reference

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

27 November 2023

author name string

W. S. Oetting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1292009

9 September 2022

R. A. King

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1292009

9 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1292009

9 September 2022

publication date

1 November 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

full work available at URL

13 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111/j.1600-0749.1992.tb00549.x

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1600-0749.1992.tb00549.x

27 November 2023

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Pigment Cell & Melanoma Research

27 November 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

13 September 2019

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

13 September 2019

issue

5 Pt 2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

274-278

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

The reaction of CN- with the binuclear copper site of Neurospora tyrosinase: its relevance for a comparison between tyrosinase and hemocyanin active sites

13 September 2019

cites work

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1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

27 November 2023

2

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Complete amino-acid sequence of a functional unit from a molluscan hemocyanin (Helix pomatia)

27 November 2023

3

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

27 November 2023

4

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

3.2 Å structure of the copper-containing, oxygen-carrying protein Panulirus interruptus haemocyanin

27 November 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Structure determination of Panulirus interruptus haemocyanin at 3.2 A resolution. Successful phase extension by sixfold density averaging

27 November 2023

6

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

27 November 2023

7

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism

27 November 2023

8

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

27 November 2023

10

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Analysis of mammalian pigmentation at the molecular level

27 November 2023

11

1 reference

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Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

27 November 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

27 November 2023

13

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism

27 November 2023

15

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Neurospora tyrosinase: structural, spectroscopic and catalytic properties

27 November 2023

16

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Functional analysis of alternatively spliced tyrosinase gene transcripts.

27 November 2023

19

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Molecular Analysis of an Extended Family with Type IA (Tyrosinase-Negative) Oculocutaneous Albinism

27 November 2023

21

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism

27 November 2023

22

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https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Molecular basis for the heterogeneity of human tyrosinase

27 November 2023

24

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism

27 November 2023

25

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

27 November 2023

28

1 reference

https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

Pseudo 2-fold symmetry in the copper-binding domain of arthropodan haemocyanins. Possible implications for the evolution of oxygen transport proteins

27 November 2023

29

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https://api.crossref.org/works/10.1111/J.1600-0749.1992.TB00549.X

27 November 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1292009 AND SRC:MED&resulttype=core&format=json

13 September 2019

1 reference