Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
about
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
Q28088832-95801AC6-AE39-47E5-8DE0-BAB4634D65ABQ34002255-154BD6F7-6139-4E27-B752-0C7FE567DE32Q34506328-36112C6C-8CCD-4D80-A2CA-1ED6BCD9E241Q35541843-3DAE3188-ADAC-4E9A-AC0B-C7D0BC7BAD76Q35645169-903F7FEE-548F-461D-9FDF-965EBD42F1E4Q37022236-63E03411-2517-4894-8CE0-91B6D13E9DFDQ37153683-38AD60F5-02F9-4AFA-A8CB-EEAD8C36841CQ37578509-5341501F-5DEB-460A-94A8-99EBC81191CAQ42761139-770E3FBA-D432-4A81-904A-BF83C70A1796Q53120163-DC394D61-00E9-49D5-B024-AF20BBD42EEDQ55491245-EE124D5D-FAD5-4712-A1E2-B88A13E8806B
P2860
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
description
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
P2093
P2860
P3181
P356
P1476
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia
@en
P2093
Ajit Chary
Alexander G Bassuk
Ann Haskins Olney
Ecaterina Dragan
Gary Lerner
Jeffrey Murray
Penny Garrett
Vinit B Mahajan
P2860
P304
P3181
P356
10.1002/AJMG.A.33621
P407
P577
2010-11-01T00:00:00Z