PMID- 10051024 OWN - NLM STAT- MEDLINE DCOM- 19990512 LR - 20191210 IS - 0022-2593 (Print) IS - 0022-2593 (Linking) VI - 36 IP - 2 DP - 1999 Feb TI - The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. PG - 174 FAU - Ivanova-Smolenskaya, I A AU - Ivanova-Smolenskaya IA FAU - Ovchinnikov, I V AU - Ovchinnikov IV FAU - Karabanov, A V AU - Karabanov AV FAU - Deineko, N L AU - Deineko NL FAU - Poleshchuk, V V AU - Poleshchuk VV FAU - Markova, E D AU - Markova ED FAU - Illarioshkin, S N AU - Illarioshkin SN LA - eng PT - Letter PT - Research Support, Non-U.S. Gov't PL - England TA - J Med Genet JT - Journal of medical genetics JID - 2985087R RN - 0 (Carrier Proteins) RN - 0 (Cation Transport Proteins) RN - EC 3.6.1.- (Adenosine Triphosphatases) RN - EC 7.2.2.8 (ATP7B protein, human) RN - EC 7.2.2.8 (Copper-Transporting ATPases) SB - IM MH - Adenosine Triphosphatases/*genetics MH - Carrier Proteins/*genetics MH - *Cation Transport Proteins MH - Chromosomes, Human, Pair 13/genetics MH - Copper-Transporting ATPases MH - Hepatolenticular Degeneration/*genetics MH - Humans MH - Point Mutation MH - Polymorphism, Single-Stranded Conformational MH - Russia PMC - PMC1734303 EDAT- 1999/03/02 00:00 MHDA- 1999/03/02 00:01 CRDT- 1999/03/02 00:00 PHST- 1999/03/02 00:00 [pubmed] PHST- 1999/03/02 00:01 [medline] PHST- 1999/03/02 00:00 [entrez] PST - ppublish SO - J Med Genet. 1999 Feb;36(2):174.