Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease-Reference-Cited by-同舟云学术

Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Published:2016-09-05 Issue:11 Volume:37 Page:1215-1222
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chen Brenden¹,Solis-Villa Constanza¹,Hakenberg Jörg¹,Qiao Wanqiong¹,Srinivasan Ramakrishnan R.¹,Yasuda Makiko¹,Balwani Manisha¹,Doheny Dana¹,Peter Inga¹,Chen Rong¹,Desnick Robert J.¹

Affiliation:

1. Department of Genetics and Genomic Sciences; Icahn School of Medicine at Mount Sinai; New York City New York

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference68 articles.

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4. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study;Andersson;Scand J Clin Lab Invest,2000

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