Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

Basit Öğe Kaydı
dc.contributor.authorDursun, A.
dc.contributor.authorOzgul, R. K.
dc.contributor.authorSivri, S.
dc.contributor.authorTokatli, A.
dc.contributor.authorGuzel, A.
dc.contributor.authorMesci, L.
dc.contributor.authorCoskun, T.
dc.date.accessioned2020-06-25T17:52:06Z
dc.date.available2020-06-25T17:52:06Z
dc.date.issued2011
dc.departmentKırıkkale Üniversitesi
dc.descriptionDursun, Ali/0000-0003-1104-9902; Ozgul, Riza Koksal/0000-0002-0283-635X
dc.description.abstractTyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively. Clinical evaluations suggest that the spectrum of symptoms observed in the patients with very early and early disease were of the more nonspecific form, whereas the patients with late-presenting disease had more of the distinctive form over the course of the disease. This study adds support to the notion that the D233V mutation is specific to the Turkish population.en_US
dc.identifier.citationDursun, A., Ozgül, R. K., Sivri, S., Tokatlı, A., Güzel, A., Mesci, L., Kılıç, M., Aliefendioglu, D., Ozçay, F., Gündüz, M., & Coşkun, T. (2011). Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. JIMD reports, 1, 17–21.en_US
dc.identifier.doi10.1007/8904_2011_10
dc.identifier.endpage21en_US
dc.identifier.isbn978-3-642-17707-1
dc.identifier.issn2192-8304
dc.identifier.pmid23430822
dc.identifier.scopus2-s2.0-84872213295
dc.identifier.scopusqualityQ1
dc.identifier.startpage17en_US
dc.identifier.urihttps://doi.org/10.1007/8904_2011_10
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5078
dc.identifier.volume1en_US
dc.identifier.wosWOS:000294929800003
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer-Verlag Berlinen_US
dc.relation.ispartofJimd Reports: Case And Research Reports, 2011/1
dc.relation.ispartofseriesJIMD Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFAH mutationsen_US
dc.subjectGenotypeen_US
dc.subjectMicroarrayen_US
dc.subjectPhenotypeen_US
dc.subjectResequencing chipen_US
dc.subjectTyrosinemia type Ien_US
dc.titleMutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Diseaseen_US
dc.typeArticle

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim
İsim:
Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease.pdf
Boyut:
74.25 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin/Full Text
İndir

Koleksiyon

WOS İndeksli Yayınlar Koleksiyonu
Makale Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu