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

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

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1988 • 17,059 citations

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1966 • 1,400 citations

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1990 • 386 citations

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1985 • 292 citations

Analysis of Mammalian Pigmentation at the Molecular Level

1989 • 238 citations

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

1989 • 206 citations

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

1985 • 176 citations

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

1988 • 171 citations

Loss of melanogenic properties in tyrosinases induced by glucosylation inhibitors within malignant melanoma cells.

1982 • 98 citations

Molecular basis for the heterogeneity of human tyrosinase.

1988 • 98 citations

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

1991 • 97 citations

Detection of Mutations in the Tyrosinase Gene in a Patient with Type IA Oculocutaneous Albinism

1990 • 92 citations

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

1991 • 92 citations

CpG dinucleotides are mutation hot spots in phenylketonuria

1989 • 86 citations

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

1991 • 86 citations

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

1990 • 75 citations

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

1985 • 64 citations

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

1990 • 54 citations

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

1988 • 46 citations

Amish albinism: a distinctive autosomal recessive phenotype.

1970 • 46 citations

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

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

1990 • 38 citations

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1986 • 26 citations

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1988 • 23 citations