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Wilson disease results from a mutated version of the gene ATP7B that, when inherited from both parents, causes liver and neurological damage and eventually death.
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
We screened 87 unrelated WD patients for nucleotide variants in the ATP7B gene.
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
This is suggestive of cooperativity between MURR1 and ATP7B, to mediate excretion of excess copper into bile.
published a PCR study on the relationship between the Arg778Leu/Gln gene mutation spot in ATP7B and the Chinese medical patterns of patients with Wilson disease (WD).
Samples not characterized with this first step will be subsequently characterized by SSCP analysis of all of the exons and the promoter region of the ATP7B gene.
We found that 15 of the 21 exons of the ATP7B gene have SNPs within 250 by of their 5' and 3' flanking regions in the NCBI human genome database (Fig.
Another poster, entitled "The effects of the copper transporters ATP7A and ATP7B on the cytotoxicity and cellular pharmacology of JM-118," (Abstract #4110), demonstrated cellular pharmacology differences that clearly distinguish JM-118, the major active metabolite of satraplatin, from cisplatin.
A heterozygous genotype for the mutation should lead to a search for the second ATP7B variation.
In a study of four pregnancies where both parents were Wilson's disease carriers, Wu's team demonstrated that cSMART can diagnose Wilson's disease if the sequences of the parents' mutant ATP7B variants are known.
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- ATPase 2C1
- ATPase 2C2
- ATPase, (Na+)/K+ transporting, beta 4 polypeptide
- ATPase, Ca(2+)-transporting, ubiquitous
- ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2
- ATPase, Ca++ transporting, cardiac muscle, fast-twitch 1
- ATPase, Ca++ transporting, cardiac muscle, slow-twitch 2
- ATPase, Ca++ transporting, plasma membrane 1
- ATPase, Ca++ transporting, plasma membrane 2
- ATPase, Ca++ transporting, plasma membrane 3
- ATPase, Ca++ transporting, plasma membrane 4
- ATPase, Ca++ transporting, type 2C, member 1
- ATPase, Ca++ transporting, type 2C, member 2
- ATPase, Ca++ transporting, ubiquitous
- ATPase, Cu(2+)- transporting, beta polypeptide
- ATPase, Cu++ transporting, alpha polypeptide
- ATPase, Cu++ transporting, beta polypeptide
- ATPase, H+ transporting lysosomal, member M
- ATPase, H+ transporting, 116kD
- ATPase, H+ transporting, lysosomal
- ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD