Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Aquaron, Robert

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. [electronic resource] - Journal of human genetics 2007 - 771-780 p. digital

Publication Type: Journal Article

1434-5161

10.1007/s10038-007-0181-y doi


Albinism, Oculocutaneous--genetics
Anemia, Sickle Cell--genetics
Cameroon
Case-Control Studies
Female
Gene Deletion
Genotype
Globins--genetics
Haplotypes
Homozygote
Humans
Membrane Transport Proteins--genetics
Mutation
Pedigree
Polymorphism, Single Nucleotide