Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria-Reference-Cited by-同舟云学术

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria

Published:2019-01 Issue:1 Volume:42 Page:186-194
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Chen Brenden¹,Solis‐Villa Constanza¹,Erwin Angelika L.¹,Balwani Manisha¹,Nazarenko Irina¹,Phillips John D.²,Desnick Robert J.¹,Yasuda Makiko¹

Affiliation:

1. Department of Genetics and Genomic SciencesIcahn School of Medicine at Mount Sinai 1425 Madison Avenue Room 14‐34, New York NY 10029 USA

2. Department of Internal MedicineUniversity of Utah Salt Lake City UT USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12040

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4. Induction of -Aminolevulinic Acid Synthetase in Chick Embryo Liver Cells in Culture

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