Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II.
Renugadevi
Kathirvel
K
Aravind Medical Research Foundation, Madurai, India. renukadevi@aravind.org
Sil
Asim Kumar
AK
Perumalsamy
Vijayalakshmi
V
Sundaresan
Periasamy
P
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
D003062:Codon; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human