Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

Item
http://www.wikidata.org/entity/Q24622648
The dynamic sclera: extracellular matrix remodeling in normal ocular growth and myopia developmentSpecific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.ADAMTS-18: a metalloproteinase with multiple functionsProteomic insight into the molecular function of the vitreousMutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephalocelesGenetic Polymorphisms Associated to Folate Transport as Predictors of Increased Risk for Acute Lymphoblastic Leukemia in Mexican Children.2,3,7,8 Tetrachlorodibenzo-p-dioxin-induced RNA abundance changes identify Ackr3, Col18a1, Cyb5a and Glud1 as candidate mediators of toxicity.Cataract surgery in Knobloch syndrome: a case report.Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome.Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
P2860

Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

Item
http://www.wikidata.org/entity/Q24622648
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2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@ast
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@en
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@nl
type
label
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@ast
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@en
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@nl
prefLabel
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@ast
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@en
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@nl
P1433
P1476
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P577
P5875
P698
P921
P932
P3181
P356
P1433
P1476
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@en
P2093
P2860
P304
P31
P3181
P356
P407
P433
P478
P577
P5875
P698
P921
P932