Associated Papers
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2022
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
A large insertion in intron 2 of the TYRP1 gene associated with American Palomino phenotype in American mink.
Cirera S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2016
The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8.
Becker D et al.
Animal Genetics, 2015
A dominant mutation in tyrp1A leads to melanophore death in zebrafish.
Krauss J et al.
Pigment Cell & Melanoma Research, 2014
Melanesian blond hair is caused by an amino acid change in TYRP1.
Kenny EE et al.
Science (new York, N.y.), 2012
Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene.
Yamada M et al.
Journal of Dermatological Science, 2011
Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism.
Forshew T et al.
Clinical Genetics, 2005
Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.
Toyofuku K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2001
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Kerr R et al.
Human Mutation, 2000
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
Manga P et al.
American Journal of Human Genetics, 1997
The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.
Kedda MA et al.
American Journal of Human Genetics, 1994
Allelism in human oculocutaneous albinism.
Warren ST
American Journal of Human Genetics, 1981
Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci.
Schmidt-Küntzel A et al.
The Journal of Heredity, 0