Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.
Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.
复制标题
由于杂合子 MEFV Thr577Asn 突变,日本家族中出现不发热的非典型表型,常染色体显性遗传家族性地中海热。
作者:
Y. Endo;T. Koga;M. Nakashima;H. Mishima;K. Yoshiura;A. Kawakami