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Journals
Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
Open Access
A novel intronic splice site
tafazzin
gene mutation detected prenatally in a family with Barth syndrome
M Bakšienė
M Bakšienė
,
E Benušienė
E Benušienė
,
A Morkūnienė
A Morkūnienė
,
L Ambrozaitytė
L Ambrozaitytė
,
A Utkus
A Utkus
and
V Kučinskas
V Kučinskas
| Dec 31, 2016
Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
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Article Category:
Case Report
Published Online:
Dec 31, 2016
Page range:
95 - 100
DOI:
https://doi.org/10.1515/bjmg-2016-0043
Keywords
Barth Syndrome (BTHS)
,
cardiomyopathy
,
Neutropenia
,
3-Methylglutaconin aciduria
,
() gene
© 2016 Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Pedigree of the studied family
The TAZ sequencing electrophoregrams showing position c.285-1 of the TAZ sequence (NM_000116) (indicated by an arrow).(A) The results in the fetus and proband’s sibling: hemizygous mutation (c.[285-1G>C];[0]); A1: forward strand; A2: reverse strand.(B) The fragments of the TAZ gene sequences of the proband, mother and maternal grandmother: heterozygous form (c.[285-1G>C];[=]); B1: forward strand; B2: reverse strand.
The location of the c.285-1G>C mutation of the TAZ gene and its effect on splicing.