|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism.
|
24934919 |
2014 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
|
23504663 |
2013 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
|
22981120 |
2012 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
|
15146472 |
2004 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
|
11858948 |
2002 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
|
11295837 |
2001 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
|
10987646 |
1999 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan.
|
10571953 |
1999 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online.
|
10671066 |
1998 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
|
9259202 |
1997 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Diagnosis of oculocutaneous albinism with molecular analysis.
|
8644824 |
1996 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
|
8128955 |
1994 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Initiation codon mutation of the tyrosinase gene as a cause of human albinism.
|
7955413 |
1994 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
|
7902671 |
1993 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.
|
1487241 |
1992 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
|
1642278 |
1992 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
|
1899321 |
1991 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
|
1943686 |
1991 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
|
1970634 |
1990 |
|
Oculocutaneous albinism type 1A
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
|
2342539 |
1990 |