A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
about
Aetiology and management of hereditary aortopathy.Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease
P2860
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
A novel variant in MYLK causes ...... ic and phenotypic description.
@ast
A novel variant in MYLK causes ...... ic and phenotypic description.
@en
type
label
A novel variant in MYLK causes ...... ic and phenotypic description.
@ast
A novel variant in MYLK causes ...... ic and phenotypic description.
@en
prefLabel
A novel variant in MYLK causes ...... ic and phenotypic description.
@ast
A novel variant in MYLK causes ...... ic and phenotypic description.
@en
P2093
P2860
P50
P1433
P1476
A novel variant in MYLK causes ...... pic and phenotypic description
@en
P2093
Bo Carlberg
Eva-Lena Stattin
Karen Sörensen
P2860
P2888
P356
10.1186/S12881-016-0326-Y
P577
2016-09-01T00:00:00Z
P6179
1049637591