Genetic Analysis of Two Japanese Patients with Non-classical 21-Hydroxylase Deficiency

Imamine, Rui; Arima, Hiroshi; Kusakabe, Miho; Umeda, Hiroshi; Sato, Ikuko; Homma, Keiko; Usui, Takeshi; Oiso, Yutaka

doi:10.2169/internalmedicine.48.1894

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Cited by 3 publications

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“…This mutation caused aberrant splicing of intron 2 with retention of 19 nucleotides normally spliced out of mRNA, resulting in a shift in the translational reading frame (Imamine et al, 2009), which led to a nearly null activity of CYP21A2. Almost all of the mRNA was aberrantly spliced.…”

Section: Discussionmentioning

confidence: 99%

Molecular diagnosis of two families with classic congenital adrenal hyperplasia

Tian

Yang

Wang

et al. 2011

Gene

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Section: Discussionmentioning

confidence: 99%

Molecular diagnosis of two families with classic congenital adrenal hyperplasia

Tian

Yang

Wang

et al. 2011

Gene

View full text Add to dashboard Cite

Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?

Akbulut

Ceylan

Tuncali

et al. 2020

J Gastrointest Canc

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Movement disorders in mitochondrial disease: a clinicopathological correlation

Flønes

Tzoulis

2018

Current Opinion in Neurology

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Movement disorders commonly accompany mitochondrial disease and may show paradoxical clinical-anatomical correlations. Further research is warranted in order to elucidate the mechanisms underlying the phenotypic expression of movement disorders in mitochondrial disease. This knowledge will advance our understanding of the pathogenesis of movement disorders in a broader clinical and pathophysiological context.

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Genetic Analysis of Two Japanese Patients with Non-classical 21-Hydroxylase Deficiency

Abstract: We report two Japanese women with androgen excess symptoms.

Cited by 3 publications

References 31 publications

Molecular diagnosis of two families with classic congenital adrenal hyperplasia

Molecular diagnosis of two families with classic congenital adrenal hyperplasia

Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?

Movement disorders in mitochondrial disease: a clinicopathological correlation

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