title: Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
authors.affiliation: Molecular and Human Genetics, Indian Institute of Chemical Biology, Kolkata, India. kunalray@gmail.com
authors.forename: Kunal
authors.initials: K
authors.lastname: Ray
authors.forename: Mainak
authors.initials: M
authors.lastname: Sengupta
mesh_terms: D016115:Albinism, Oculocutaneous / Q000235:genetics; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007194:India; D007438:Introns; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites
chemical_list: D003062:Codon; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D022821:RNA Splice Sites