Concepedia

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Chloe Miu Mak, Ching‐Wan Lam, Sidney Tam, Ching‐Lung Lai, Lik-Yuen Chan, Jak-Yiu Lai, Patrick Man Pan Yuen, Joannie Hui, Chun-Cheung Fu, Ka Sing Wong,

Journal of Human Genetics · 2007 · 74 citations · 37 references

DOI

Concepts

References

37

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Konstantin Petrukhin, S G Fischer, Mario Pirastu et al. · Nature Genetics · 1993 · 509 citations

, , +8

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Anjali B. Shah, Hong Tao Zhang, Barbara M. Ross et al. · The American Journal of Human Genetics · 1997 · 353 citations · Full text

, , +17

Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease

Manoj Nanji, Trong Tue Nguyen, Jean H. Kawasoe et al. · The American Journal of Human Genetics · 1997 · 142 citations · Full text

, , +13

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

A Figus, Andrea Angius, Georgios Loudianos et al. · PubMed · 1995 · 141 citations

, , +11

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Yao Lu, Keiko Kobayashi, Miharu Ushikai et al. · Journal of Human Genetics · 2005 · 119 citations

, , +7