Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene - Wikidata - awgldk - TriplyDB

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

http://www.wikidata.org/entity/Q24672455

about

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A Current and emerging treatments and surgical interventions for Morquio A syndrome: a review Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.Overcoming the barriers to diagnosis of Morquio A syndrome Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.Mucopolysaccharidosis IVA and glycosaminoglycans.Epidemiology of mucopolysaccharidoses.

P2860

Q24676213-0ED7A6F5-3DB3-4299-994F-8B0C909AD1CF Q27671826-EC5053BD-64D6-46B3-9EF5-3E1B2FFF42F0 Q33610398-F931F453-2A34-4F5F-94C4-2D73613AD444 Q34556008-FE1588BE-F82F-48AC-8858-187C54F099DA Q34789123-AB092BBE-EA75-46C2-AC57-9E96732A2D5B Q37126295-A9C5F444-4F31-4F69-A1B4-BBCFA814D517 Q37189808-905F3752-7AD5-47D3-A9B4-787BF554A522 Q37626886-D90F71B4-0DF8-4E24-B85F-76FB534F15DA Q38735623-2CD78F26-F74A-4761-A636-3FCFACAF1CBF

P2860

Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene

http://www.wikidata.org/entity/Q24672455

description

1995 nî lūn-bûn

@nan

1995 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

1995 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

1995年の論文

@ja

1995年論文

@yue

1995年論文

@zh-hant

1995年論文

@zh-hk

1995年論文

@zh-mo

1995年論文

@zh-tw

1995年论文

@wuu

name

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@ast

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@en

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@nl

type

label

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@ast

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@en

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@nl

prefLabel

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@ast

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@en

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@nl

P1433

Q24672455-2E95B33B-4880-4307-BC58-C9BC1E8A49EF

P1476

Q24672455-2B903985-4E58-426B-ACE0-0A4B0C7DAEEB

P2093

Q24672455-028061DD-4D90-4C29-B165-74254E4EC299

Q24672455-0E5A94CF-38A0-4CB2-86C3-6317A2D7F014

Q24672455-34E6DE37-B35C-426F-8127-6C18135586A5

Q24672455-36166386-6781-463F-A77A-CFC86D0EAE2B

Q24672455-5DE9E3E6-697A-4A14-B569-1D02081198AD

Q24672455-64B82E10-4078-4148-B295-32005D07A76B

Q24672455-74DF3578-2DB4-44E8-A20E-520AACDEFBD1

Q24672455-81B93B53-6B77-4379-A0B2-618342437759

Q24672455-A5FA0154-94F1-4F72-8587-9FAFEFCFA0C6

Q24672455-DB50D329-5B5A-489C-B422-CEC87380F564

P2860

Q24672455-00501A04-97FA-47C9-B12A-464688AEBB74

Q24672455-03CE091F-5A11-4A90-8740-676F4600745B

Q24672455-163A0DBD-DB65-4DC4-86BE-E80F3793B0B6

Q24672455-2E8B0F8A-B82B-4F4E-865A-1901BB7D94E4

Q24672455-411CA293-89F5-4DBF-AF5A-54DE99AE1AF8

Q24672455-5EBD8A28-F2CE-4E17-BE21-B757E7D2955D

Q24672455-6204C708-7CF4-4888-9E4E-6ECC65FB737C

Q24672455-6EC211E6-D48C-4AB5-8251-41966688F87A

Q24672455-726FF8F3-4F80-47FA-8BE5-EA3F9422F14D

Q24672455-83DC3FA9-C7AF-4924-91B0-DC8CEB662175

P304

Q24672455-395B7F34-D9D0-4FBE-BD9E-5044B7841F25

P31

Q24672455-BCEA4F72-57F1-4170-9E69-8C3447C01183

P407

Q24672455-0E58934C-D500-41EE-BF4B-54FCF0CF115D

P433

Q24672455-12152E56-81FA-4A71-BDF1-57F555B42B4C

P478

Q24672455-43CA200C-B2EC-490F-A2ED-E9A66E85D59B

P577

Q24672455-31E47BAE-79C1-4C2D-8801-9355091746BB

P698

Q24672455-77199F62-A3E6-4E33-84F2-483FAECFD248

P932

Q24672455-72BC8FED-393C-46D5-90DD-88590DB9ACF1

P1433

American Journal of Human Genetics

P1476

Mucopolysaccharidosis IVA: ide ...... amine-6-sulfate sulfatase gene

@en

P2093

Cooper A

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

Fukuda S

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

Isogai K

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

Kato Z

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

Rezvi GM

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

Sukegawa K

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

Tomatsu S

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

Wraith JE

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

Yamada N

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

Yamagishi A

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

P2860

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24

Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3

Molecular basis of different forms of metachromatic leukodystrophy

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.

P304

556-563

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

P31

scholarly article

P407

P433

3

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

P478

57

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

P577

1995-09-01T00:00:00Z

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

P698

7668283

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

P932

1801282

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