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Results of search for 'au:"Solis-Villa, Constanza"'
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Authors
Balwani, Manisha
Chen, Brenden
Chen, Rong
Desnick, Robert J
Doheny, Dana
Erwin, Angelika L
Hakenberg, Jörg
Nazarenko, Irina
Peter, Inga
Phillips, John D
Qiao, Wanqiong
Solis-Villa, Constanza
Srinivasan, Ramakrishnan R
Yasuda, Makiko
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Topics
Computer Simulation
Female
Gene Frequency
Genetic Variation
Humans
Hydroxymethylbilane Synthase
Male
Mutagenesis, Insertional
Mutation
Mutation, Missense
Penetrance
Porphyria, Acute Intermittent
Sequence Analysis, DNA
Sequence Deletion
White People
ethnology
genetics
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English
Your search returned 2 results.
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1.
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
[electronic resource]
by
Chen, Brenden
Solis-Villa, Constanza
Erwin, Angelika L
Balwani, Manisha
Nazarenko, Irina
Phillips, John D
Desnick, Robert J
Yasuda, Makiko
Producer:
20200401
In:
Journal of inherited metabolic disease
vol. 42
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Available from publisher's website
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2.
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
[electronic resource]
by
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
Producer:
20171107
In:
Human mutation
vol. 37
Online resources:
Available from publisher's website
Availability:
No items available.
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