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A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

M Bakšienė

M Bakšienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Bakšienė, M
, 
E Benušienė

E Benušienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Benušienė, E
, 
A Morkūnienė

A Morkūnienė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Morkūnienė, A
, 
L Ambrozaitytė

L Ambrozaitytė

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Ambrozaitytė, L
, 
A Utkus

A Utkus

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Utkus, A
 und 
V Kučinskas

V Kučinskas

  • Center for Medical Genetics, Vilnius University Hospital Santariškių KlinikosVilnius, Lithuania
  • Department of Human and Medical Genetics, Vilnius UniversityVilnius, Lithuania
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Kučinskas, V
  
31. Dez. 2016
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome's Cover Image
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Artikel-Kategorie: Case Report
Online veröffentlicht: 31. Dez. 2016
Seitenbereich: 95 - 100
DOI: https://doi.org/10.1515/bjmg-2016-0043
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© 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
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 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.
The location of the c.285-1G>C mutation of the TAZ gene and its effect on splicing.
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