Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.
Koizumi A, Matsuura N, Inoue S, Utsunomiya M, Nozaki J, Inoue K, Takasago Y; Mass Screening Group.
Koizumi A, et al.
Genet Test. 2003 Spring;7(1):29-35. doi: 10.1089/109065703321560903.
Genet Test. 2003.
PMID: 12820699
Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino acids. We recently reported a local cluster of LPI in the northern part of Japan (Koizumi et al., 2000). Mutational analysis of …
Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino a …