title: Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
authors.affiliation: Aravind Medical Research Foundation, Madurai, India. renukadevi@aravind.org
authors.forename: Kathirvel
authors.initials: K
authors.lastname: Renugadevi
authors.forename: Asim Kumar
authors.initials: AK
authors.lastname: Sil
authors.forename: Vijayalakshmi
authors.initials: V
authors.lastname: Perumalsamy
authors.forename: Periasamy
authors.initials: P
authors.lastname: Sundaresan
mesh_terms: D016115:Albinism, Oculocutaneous / Q000145:classification / Q000235:genetics*; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense
chemical_list: D003062:Codon; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human