A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen - Wikidata - awgldk - TriplyDB

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

http://www.wikidata.org/entity/Q30827180

about

Alport syndrome: facts and opinions.The nature and biology of basement membranes.The highly expressed COL4A1 genes contributes to the proliferation and migration of the invasive ductal carcinomas Reporting renal biopsies from Cyprus: a systematic approach The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.MicroRNA-214-5p/TGF-β/Smad2 signaling alters adipogenic differentiation of bone marrow stem cells in postmenopausal osteoporosis.A further genetic cause of thin basement membrane nephropathy.Neonatal stroke and haematuria: Answers.

P2860

Q37595448-7CE6A6E7-7212-48D1-A48F-0E3A1CC98197 Q39063783-0FD82CB6-E43A-428D-9AB5-C7F378D72B6F Q41709343-969BA2D7-C314-46DF-B696-27B3AC093F92 Q42361931-BFC8B010-496C-48B1-9886-C0DC7C039037 Q50208692-E15A3EA3-CE6D-4D0B-BAF9-814E1EA615EA Q52658570-8350C162-92A3-4DED-9332-9E4C3DF3687F Q53732159-A76B7D61-5603-47F4-B045-D1E07944B0A8 Q53754759-FE745829-C9B4-4D11-9A90-BC1071EEE6AC

P2860

A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

http://www.wikidata.org/entity/Q30827180

description

2016 nî lūn-bûn

@nan

2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

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

name

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@ast

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@en

type

label

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@ast

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@en

prefLabel

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@ast

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@en

P1433

Q30827180-6A96785D-BF9E-4CD7-9D60-C7906348984A

P1476

Q30827180-5C16E878-B31D-4E61-8CE8-B96C1EEC0F50

P2093

Q30827180-20137BF4-0438-4B02-BB7A-CDF8D73B3B4F

Q30827180-53626708-A5AB-41FA-99EB-48B392210472

Q30827180-5ECAE611-3728-47BA-95F0-BC84027E2D14

Q30827180-6643A10A-B9A5-483B-A43C-9C7CD1FF0AEB

Q30827180-A4853575-6685-425B-89C3-4F5CB1B58C50

Q30827180-B421BA4F-2537-46AA-AB5C-DA1E76783643

P2860

Q30827180-1E164010-44DB-4D6C-8F82-FEE950805AD4

Q30827180-20FF9B71-AA47-4DA3-A9E8-964F3BB92E7D

Q30827180-3C7C49EA-D865-46FC-9A5A-2D507E892F6D

Q30827180-40DE2B03-E5F5-448F-ADA5-6C5BA70FEC20

Q30827180-4BBF5964-FC7F-4432-BEC9-C8E200C58F70

Q30827180-61B7DA4F-9E8B-41DE-975F-8236214E703D

Q30827180-62368587-1EAD-4E37-BA52-5D450A84F871

Q30827180-637D532B-E672-470B-B81E-3CCC1E6E7888

Q30827180-66582C98-47DC-431E-9782-60C19DFEF5F6

Q30827180-69CCB3E5-7A49-445E-BD4D-C674CA123926

P304

Q30827180-FF29BB63-CEEC-4117-80CA-2E14B89E6DD4

P31

Q30827180-B39D2E88-ADA2-4718-9AEE-39BF7C158660

P356

Q30827180-0366CB07-2E1B-4E1F-8E85-47B08B59A05B

P407

Q30827180-FB9E3E27-4DC5-4D60-9558-710952F0ECFC

P433

Q30827180-422DE426-D679-4811-AA2B-BBEDD4E85B40

P478

Q30827180-76E5CB40-9046-4924-BD30-97AAE62452E2

P50

Q30827180-0F1F31CB-A07E-4624-9C19-5A5290062F6A

Q30827180-38A5C447-836A-466D-8DF6-C4006926349C

Q30827180-9DD77C7E-85EE-4FE6-AE4D-E130EAA1B71B

P577

Q30827180-309D845A-35CA-4E38-A35C-8FC43316F913

P5875

Q30827180-612593AA-7BDA-443C-AE20-D75C64346CC7

P698

Q30827180-0E31A34F-6288-4943-9A78-F33A7FC3A080

P932

Q30827180-F4649D82-A3CA-4B87-9C19-24CE2440D116

P356

P1433

Nephrology Dialysis Transplantation

P1476

A novel COL4A1 frameshift muta ...... NC1 domain of type IV collagen

@en

P2093

D Deren Oygar

http://www.w3.org/2001/XMLSchema#string

Fujun Lin

http://www.w3.org/2001/XMLSchema#string

Guy H Neild

http://www.w3.org/2001/XMLSchema#string

Marta Lapsley

http://www.w3.org/2001/XMLSchema#string

Nadia Khan

http://www.w3.org/2001/XMLSchema#string

P Derin Oygar

http://www.w3.org/2001/XMLSchema#string

P2860

The 1.9-A crystal structure of the noncollagenous (NC1) domain of human placenta collagen IV shows stabilization via a novel type of covalent Met-Lys cross-link

COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy

Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain

Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

A sulfilimine bond identified in collagen IV

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

P304

1908-1914

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/NDT/GFW051

http://www.w3.org/2001/XMLSchema#string

P407

P433

11

http://www.w3.org/2001/XMLSchema#string

P478

31

http://www.w3.org/2001/XMLSchema#string

P50

Patrick H Maxwell

Thomas M Connor

P577

2016-04-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

300079584

http://www.w3.org/2001/XMLSchema#string

P698

27190376

http://www.w3.org/2001/XMLSchema#string

P932

5091614

http://www.w3.org/2001/XMLSchema#string