First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability

Author: Shimada Hiroyuki   Shimizu Kimiko   Mimaki Sachiyo   Sakiyama Tokuki   Mori Tetsuya   Shimasaki Noriko   Yokota Jun   Nakachi Kei   Ohta Tsutomu   Ohki Misao  

Publisher: Springer Publishing Company

ISSN: 0340-6717

Source: Human Genetics, Vol.115, Iss.5, 2004-10, pp. : 372-376

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