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Author/Creator Solis‐Villa, Constanza

1. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Issue 11 (5th September 2016)

Authors:
Chen, Brenden; Solis‐Villa, Constanza; Hakenberg, Jörg; Qiao, Wanqiong; Srinivasan, Ramakrishnan R.; Yasuda, Makiko; Balwani, Manisha; Doheny, Dana; Peter, Inga; Chen, Rong; Desnick, Robert J.
Journal:
Human mutation
Issue:
Volume 37:Issue 11(2016)
Page Start:
1215
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Issue 1 (11th February 2019)

Authors:
Chen, Brenden; Solis‐Villa, Constanza; Erwin, Angelika L.; Balwani, Manisha; Nazarenko, Irina; Phillips, John D.; Desnick, Robert J.; Yasuda, Makiko
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
186
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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