First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

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Title: First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Authors: Belosevic, Adrian1 (AUTHOR), Minder, Anna-Elisabeth2,3 (AUTHOR), Gueuning, Morgan4 (AUTHOR), van Breemen, Franziska1,3 (AUTHOR), Thun, Gian Andri4 (AUTHOR), Mattle-Greminger, Maja P.4 (AUTHOR), Meyer, Stefan5 (AUTHOR), Baumer, Alessandra6 (AUTHOR), Minder, Elisabeth I.2,3 (AUTHOR), Schneider-Yin, Xiaoye1,3 (AUTHOR), Barman-Aksözen, Jasmin1,3 (AUTHOR) jasmin.barman@stadtspital.ch
Source: Life (2075-1729). Sep2023, Vol. 13 Issue 9, p1889. 11p.
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  Data: First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
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  Data: <searchLink fieldCode="JN" term="%22Life+%282075-1729%29%22">Life (2075-1729)</searchLink>. Sep2023, Vol. 13 Issue 9, p1889. 11p.
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        Value: 10.3390/life13091889
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        Text: English
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      – TitleFull: First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
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              Text: Sep2023
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