(Q35661466)

9 August 2017

Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism (English)

1 reference

9 August 2017

1 reference

W. S. Oetting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487241

1 October 2022

R. A. King

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1487241

1 October 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=1487241

1 October 2022

publication date

1 November 1992

1 reference

9 August 2017

1 reference

9 August 2017

90

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9 August 2017

258-262

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9 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00220074

9 August 2017

0 references

cites work

Amish albinism: a distinctive autosomal recessive phenotype

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

12 December 2020

Biochemistry of melanin formation

1 reference

12 December 2020

Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism

1 reference

12 December 2020

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

1 reference

12 December 2020

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

DNA sequencing with chain-terminating inhibitors

1 reference

12 December 2020

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

1 reference

12 December 2020

The effect of temperature on tyrosinase activity in Himalayan mouse skin

1 reference

12 December 2020

Molecular basis of mouse Himalayan mutation

1 reference

12 December 2020

Mechanisms of spontaneous and induced frameshift mutation in bacteriophage T4.

1 reference

12 December 2020

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

1 reference

12 December 2020

Analysis of mammalian pigmentation at the molecular level

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis for the heterogeneity of human tyrosinase

1 reference

12 December 2020

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

1 reference

12 December 2020

Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The mutational specificity of DNA polymerases-alpha and -gamma during in vitro DNA synthesis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00220074

1 reference

9 August 2017

1 reference