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Items: 7

1.
The Somatic FAH c.1061C>A Change Counteracts the Frequent FAH c.1062+5G>A Mutation and Permits U1snRNA-Based Splicing Correction
Daniela Scalet, Claudia Sacchetto, Francesco Bernardi, Mirko Pinotti, Stan F.J. van de Graaf, Dario Balestra
J Hum Genet. Author manuscript; available in PMC 2018 Sep 1.
Published in final edited form as: J Hum Genet. 2018 May; 63(5): 683–686. Published online 2018 Mar 1. doi: 10.1038/s10038-018-0427-x
PMCID:
PMC5919117
AbstractArticlePDF–450K
2.
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Patrick R. Blackburn, Raymond D. Hickey, Rebecca A. Nace, Nasra H. Giama, Daniel L. Kraft, Andrew J. Bordner, Roongruedee Chaiteerakij, Jennifer B. McCormick, Maja Radulovic, Rondell P. Graham, Michael S. Torbenson, Silvia Tortorelli, C. Ronald Scott, Noralane M. Lindor, Dawn S. Milliner, Devin Oglesbee, Wafa'a Al‐Qabandi, Markus Grompe, Dimitar K. Gavrilov, Mounif El‐Youssef, Karl J. Clark, Paldeep S. Atwal, Lewis R. Roberts, Eric W. Klee, Stephen C. Ekker
Hum Mutat. 2016 Oct; 37(10): 1097–1105. Published online 2016 Aug 8. doi: 10.1002/humu.23047
PMCID:
PMC5108417
AbstractArticlePDF–789K
3.
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy
Sarar Mohamed, Mohammed A Kambal, Nasir A Al Jurayyan, Abdulrahman Al-Nemri, Amir Babiker, Rana Hasanato, Abdullah S Al-Jarallah
BMC Res Notes. 2013; 6: 362. Published online 2013 Sep 9. doi: 10.1186/1756-0500-6-362
PMCID:
PMC3846631
AbstractArticlePDF–1.7M
4.
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
R M Tanguay, J P Valet, A Lescault, J L Duband, C Laberge, F Lettre, M Plante
Am J Hum Genet. 1990 Aug; 47(2): 308–316.
PMCID:
PMC1683717
SummaryPage BrowsePDF–2.0M
5.
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.
D Phaneuf, Y Labelle, D Bérubé, K Arden, W Cavenee, R Gagné, R M Tanguay
Am J Hum Genet. 1991 Mar; 48(3): 525–535.
PMCID:
PMC1682993
SummaryPage BrowsePDF–2.2M
6.
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.
D Phaneuf, M Lambert, R Laframboise, G Mitchell, F Lettre, R M Tanguay
J Clin Invest. 1992 Oct; 90(4): 1185–1192. doi: 10.1172/JCI115979
PMCID:
PMC443158
SummaryPage BrowsePDF–1.8M
7.
Nucleotide sequence of cDNA encoding human fumarylacetoacetase.
E Agsteribbe, H van Faassen, M V Hartog, T Reversma, J W Taanman, H Pannekoek, R F Evers, G M Welling, R Berger
Nucleic Acids Res. 1990 Apr 11; 18(7): 1887. doi: 10.1093/nar/18.7.1887
PMCID:
PMC330610
SummaryPage BrowsePDF–155K

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