De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy-Reference-Cited by-同舟云学术

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

Author:

Nakajima J.¹²,Okamoto N.³,Tohyama J.⁴,Kato M.⁵,Arai H.⁶,Funahashi O.¹,Tsurusaki Y.¹,Nakashima M.¹,Kawashima H.²,Saitsu H.¹,Matsumoto N.¹,Miyake N.¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama Japan

2. Department of Pediatrics; Tokyo Medical University; Shinjuku Japan

3. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Japan

4. Department of Pediatrics, Epilepsy Center; Nishi-Niigata Chuo National Hospital; Niigata Japan

5. Department of Pediatrics; Yamagata University Faculty of Medicine; Yamagata Japan

6. Department of Pediatric Neurology; Morinomiya Hospital; Osaka Japan

Funder

Ministry of Health, Labour and Welfare

The Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

3. Tissue-specific expression in mammalian brain, heart, and muscle of S1, a member of the elongation factor-1 alpha gene family;Lee;J Biol Chem,1992

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