@article{oai:kanazawa-u.repo.nii.ac.jp:00027413,
 author = {Furuya, Hirokazu and Yoshioka, Katsuji and Sasaki, Hiroyuki and Sakaki, Yoshiyuki and Nakazato, Masamitsu and Matsuo, Hisayuki and Nakadai, Akira and Ikeda, Shu-ichi and Yanagisawa, Nobuo},
 issue = {6},
 journal = {Journal of Clinical Investigation},
 month = {Dec},
 note = {A Japanese family with atypical type I familial amyloidotic polyneuropathy (FAP) in Iiyama, Japan, was studied. Most of the family members have dysfunctions of the central nervous system, in addition to typical symptoms of type I FAP. The transthyretin (TTR, also called prealbumin) gene of the atypical FAP (FAP-IY) was analyzed with recombinant DNA techniques and a RIA method. FAP-IY was found to have the mutation responsible for the methionine-for-valine substitution at position 30 of TTR, as in the case of typical type I FAP. However, analysis of DNA polymorphisms in the TTR locus showed that FAP-IY has a genetic background differing from that of the typical type I FAP. These observations lead to the consideration that a genetic factor(s) involved in the dysfunction of the central nervous system may locate in a chromosome region in close proximity to the TTR gene., 金沢大学がん研究所がん分子細胞制御},
 pages = {1706--1711},
 title = {Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs},
 volume = {80},
 year = {1987}
}