Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism (Q35196703)

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20 September 2019

title

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism (English)

1 reference

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20 September 2019

main subject

oculocutaneous albinism

1 reference

R A Spritz

1 reference

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20 September 2019

L B Giebel

1 reference

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20 September 2019

R K Tripathi

1 reference

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20 September 2019

K M Strunk

1 reference

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20 September 2019

J M Hanifin

1 reference

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20 September 2019

C E Jackson

1 reference

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20 September 2019

R A King

1 reference

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20 September 2019

language of work or name

English

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publication date

1 June 1991

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1903591%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 September 2019

published in

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20 September 2019

volume

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20 September 2019

issue

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20 September 2019

page(s)

1159-1167

1 reference

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Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

20 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Demonstration of tyrosinase in the vitiligo skin of human beings by a sensitive fluorometric method as well as by 14C(U)-L-tyrosine incorporation into melanin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Amish albinism: a distinctive autosomal recessive phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Double stranded DNA sequencing as a choice for DNA sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

pH-dependent interconversion of two forms of tyrosinase in human skin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

RFLP for TaqI at the human tyrosinase locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

A simplification of the protein assay method of Lowry et al. which is more generally applicable

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Isolation of human tyrosinase from cultured melanoma cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683101

Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location

26 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemistry of melanin formation

1 reference

12 December 2020

Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1903591%20AND%20SRC:MED&resulttype=core&format=json

20 September 2019

PubMed publication ID

1903591

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1903591%20AND%20SRC:MED&resulttype=core&format=json