Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
The Hermansky-Pudlak Syndrome, a "tyrosinase positive' form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage.
|
7298260 |
1981 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The implication of the tyrosinase assay results in light of the phenotype and the possible location of the pigment block in these forms of OCA are discussed.
|
3918447 |
1985 |
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
CTD_human |
We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA.
|
2511845 |
1989 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism.
|
2517365 |
1989 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals.
|
1970634 |
1990 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
|
1970634 |
1990 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
|
2342539 |
1990 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
|
1903591 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
|
1832718 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.
|
1905879 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we report a new type of OCA that results from a tyrosinase allele producing a temperature-sensitive enzyme.
|
1900307 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
|
1903591 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.
|
1905879 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Biochemical analysis suggests that this is a tyrosinase-related type of oculocutaneous albinism.
|
1951438 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
|
1899321 |
1991 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
|
1642278 |
1992 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutational mapping of the catalytic activities of human tyrosinase.
|
1429711 |
1992 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA.
|
1642278 |
1992 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutational mapping of the catalytic activities of human tyrosinase.
|
1429711 |
1992 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.
|
8434585 |
1993 |
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we present an analysis of the TYR gene in eight Indo-Pakistani patients with type I OCA.
|
7902671 |
1993 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
|
7902671 |
1993 |
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular analyses of a tyrosinase-negative albino family.
|
8430701 |
1993 |