Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

doi:10.1111/pedi.12544

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Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

Pediatric diabetes - 1 Mar 2018

Ushijima Kikumi, Fukami Maki, Ayabe Tadayuki, Narumi Satoshi, Okuno Misako, Nakamura Akie, Takahashi Toshikazu, Ihara Kenji, Ohkubo Kazuhiro, Tachikawa Emiko, Nakayama Shoji, Arai Junichi, Kikuchi Nobuyuki, Kikuchi Toru, Kawamura Tomoyuki, Urakami Tatsuhiko, Hata Kenichiro, Nakabayashi Kazuhiko, Matsubara Yoichi, Amemiya Shin, Ogata Tsutomu, Yokota Ichiro, Sugihara Shigetaka

Abstract excerpt

BACKGROUND: Mutations in causative genes for neonatal diabetes or maturity-onset diabetes of the young have been identified in multiple patients with autoantibody-negative type 1 diabetes (T1D). OBJECTIVES: We aimed to clarify the prevalence and phenotypic characteristics of monogenic abnormalities among 89 children with autoantibody-negative insulin-requiring T1D. METHODS: Mutations in 30 genes were screened...

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PMID: 28597946
DOI: 10.1111/pedi.12544

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