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A novel variant in MYLK causes thoracic aortic dissections : genotypic and phenotypic description

Published on Dec 1, 2016in BMC Medical Genetics1.74
· DOI :10.1186/s12881-016-0326-y
Matias Hannuksela3
Estimated H-index: 3
(Umeå University),
Eva-Lena Stattin17
Estimated H-index: 17
(Umeå University)
+ 4 AuthorsBo Carlberg28
Estimated H-index: 28
(Umeå University)
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Abstract
Background: Mutations in MYLK cause non- syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characteri ...
  • References (29)
  • Citations (9)
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References29
Newest
#1Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
#2Dongchuan Guo (University of Texas Health Science Center at Houston)H-Index: 32
Last.A Child (Lond: University of London)H-Index: 16
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#1Adam Ameur (Science for Life Laboratory)H-Index: 22
#2Ignas Bunikis (Science for Life Laboratory)H-Index: 7
Last.Ulf Gyllensten (Science for Life Laboratory)H-Index: 74
view all 4 authors...
#1D Altshuler (Broad Institute)H-Index: 177
#2Richard Durbin (Wellcome Trust Sanger Institute)H-Index: 103
Last.Sherine E. Gabriel (Broad Institute)H-Index: 168
view all 10 authors...
Cited By9
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#1Stephanie Wallace (University of Texas Health Science Center at Houston)H-Index: 3
#2Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
Last.Catherine Boileau (Paris Diderot University)H-Index: 55
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#1Anna Keravnou (The Cyprus Institute of Neurology and Genetics)H-Index: 4
#2Evy Bashiardes (The Cyprus Institute of Neurology and Genetics)H-Index: 6
Last.Marios A. Cariolou (The Cyprus Institute of Neurology and Genetics)H-Index: 18
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#1Callie S. Kwartler (University of Texas Health Science Center at Houston)H-Index: 11
#2Li-MinGONG (University of Texas Health Science Center at Houston)H-Index: 22
Last.James T. Stull (UTSW: University of Texas Southwestern Medical Center)H-Index: 65
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#1Danny Halim (Erasmus University Medical Center)H-Index: 5
#2Erwin Brosens (Erasmus University Medical Center)H-Index: 9
Last.Bianca M. de Graaf (Erasmus University Medical Center)H-Index: 13
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