Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

Yukiko Kondo, Eriko Koshimizu, Andre Megarbane, Haruka Hamanoue, Ippei Okada, Kiyomi Nishiyama, Hirofumi Kodera, Satoko Miyatake, Yoshinori Tsurusaki, Mitsuko Nakashima, Hiroshi Doi, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Genet Jul 5, 1905
Substantial FNBP4 expression in eye tissues was confirmed by PCR using complementary DNA (cDNA) from human fetal and adult eye tissues (BioChain, Newark, CA; Fig. 1E). PCR mixture containing …

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