Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
about
Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing.Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
P2860
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@ast
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@en
type
label
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@ast
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@en
prefLabel
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@ast
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@en
P2093
P2860
P356
P1476
Vascular Ehlers-Danlos Syndrom ...... bility in the extended family.
@en
P2093
Agnete Jørgensen
Dru F Leistritz
Melanie G Pepin
Per I Lunde
Peter H Byers
Torgrim O Vorren
Toril Fagerheim
P2860
P2888
P304
P356
10.1038/EJHG.2014.181
P577
2014-09-10T00:00:00Z