Show simple item record

dc.contributor.authorYalcinkaya, C.
dc.contributor.authorOzes, B.
dc.contributor.authorEraksoy, M.
dc.contributor.authorLupski, J. R.
dc.contributor.authorBattaloglu, E.
dc.contributor.authorYapici, Z.
dc.contributor.authorBilir, B.
dc.contributor.authorBaris, I.
dc.contributor.authorCarvalho, C. M. B.
dc.contributor.authorBartnik, M.
dc.date.accessioned2021-03-03T16:15:20Z
dc.date.available2021-03-03T16:15:20Z
dc.date.issued2013
dc.identifier.citationBilir B., Yapici Z., Yalcinkaya C., Baris I., Carvalho C. M. B. , Bartnik M., Ozes B., Eraksoy M., Lupski J. R. , Battaloglu E., "High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease", CLINICAL GENETICS, cilt.83, sa.1, ss.66-72, 2013
dc.identifier.issn0009-9163
dc.identifier.otherav_43473685-1bb5-43e2-b9de-d2cda734fff5
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/48932
dc.identifier.urihttps://doi.org/10.1111/j.1399-0004.2012.01846.x
dc.description.abstractBilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CMB, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Clin Genet 2013: 83: 66-72. (C) John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 Pelizaeus-Merzbacher disease is an early onset dysmyelinating leukodystrophy. About 80% of PMD cases have been associated with duplications and mutations of the proteolipid protein 1 (PLP1) gene. Pelizaeus-Merzbacher-like disease is a genetically heterogeneous autosomal recessive disease and rarely caused by mutations in gap junction protein alpha 12 (GJA12/GJC2) gene. The molecular basis of the disease was investigated in a cohort of 19 Turkish families. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations at least in our cohort, and suggested further genetic heterogeneity.
dc.language.isoeng
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleHigh frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease
dc.typeMakale
dc.relation.journalCLINICAL GENETICS
dc.contributor.departmentBoğaziçi Üniversitesi , ,
dc.identifier.volume83
dc.identifier.issue1
dc.identifier.startpage66
dc.identifier.endpage72
dc.contributor.firstauthorID22913


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record