Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
King R.A.; Mentink M.M.; Oetting W.S.;
Mol. Biol. Med. 8:19-29(1991)
Cited for: VARIANTS OCA1A GLY-42; TYR-55; THR-206 AND ARG-419;
Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.
Opitz S.; Kaesmann-Kellner B.; Kaufmann M.; Schwinger E.; Zuehlke C.;
Hum. Mutat. 23:630-631(2004)
Cited for: VARIANTS OCA1A ARG-44; GLY-44; ASP-47; VAL-47; HIS-68; GLN-77; LEU-79; LEU-81; SER-155; PHE-177; LEU-179; ASN-180; ASN-199; SER-201; SER-217; LEU-236; VAL-240; THR-243; TYR-256; ARG-289; GLU-318; PRO-329; THR-332; GLY-345; PRO-355; LYS-373; LYS-378; ASN-383; PHE-393; ARG-395; VAL-398; ALA-398; LEU-402; SER-403; ASN-404; LEU-405; LEU-406; HIS-408; ASP-409; SER-416; HIS-417; ARG-419; GLN-422; PHE-424; LYS-426; GLY-427; ILE-434; ASP-435; GLY-444 AND ASN-448; VARIANTS TYR-192 AND GLN-402;
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