Condition: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
rs104894314 in
LOC107984363;TYR gene and
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
PMID 1903591 1991 "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
PMID 1900309 1991 A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
rs104894313 in
TYR;LOC107984363 gene and
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
PMID 1903591 1991 "Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.
PMID 1900309 1991 A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
PMID 8128955 1994 Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
PMID 21985232 2012 Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.
PMID 2342539 1990 Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
PMID 1429711 1992 Mutational mapping of the catalytic activities of human tyrosinase.