Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease. - Wikidata - awgldk - TriplyDB

Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.

Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.

http://www.wikidata.org/entity/Q34181410

about

Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.

P2860

Q37685931-1FED3EDB-63B9-4FA7-88F8-7D88C87FA6A0 Q38672968-107BD4AA-9748-475F-B82A-05A104012743 Q43141010-25B385FE-5DF9-452D-8D4A-ACCA3937596D

P2860

Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.

http://www.wikidata.org/entity/Q34181410

description

2012 nî lūn-bûn

@nan

2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年学术文章

@wuu

2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

@zh-sg

2012年學術文章

@yue

name

Copy number variations due to ...... chronic granulomatous disease.

@ast

Copy number variations due to ...... chronic granulomatous disease.

@en

Copy number variations due to ...... chronic granulomatous disease.

@nl

type

label

Copy number variations due to ...... chronic granulomatous disease.

@ast

Copy number variations due to ...... chronic granulomatous disease.

@en

Copy number variations due to ...... chronic granulomatous disease.

@nl

prefLabel

Copy number variations due to ...... chronic granulomatous disease.

@ast

Copy number variations due to ...... chronic granulomatous disease.

@en

Copy number variations due to ...... chronic granulomatous disease.

@nl

P1433

Q34181410-2C5C17FF-2E78-49C3-A367-95475B378634

P1476

Q34181410-593E2F92-3D9A-4077-BB3C-FE3C6AE5EDD0

P2093

Q34181410-2803E85B-D31F-4705-8F47-A3218869B98A

Q34181410-2FF5652C-B77B-4519-A2C0-D541228EF695

Q34181410-4913FB3F-7EFB-4C29-8D18-3B2CD31637C6

Q34181410-84F9608C-4AF4-4E6E-88F2-9D2059B6A9A8

Q34181410-BBC46BAB-1CEA-4C07-8F9E-18762EA144D8

Q34181410-BF4AB29C-9A67-4D8F-A9F9-80BE73D88EEB

Q34181410-DA2D22B3-B394-432E-A2C3-12960A8F7DFC

Q34181410-DE2F1395-6823-4996-BF2C-0F7A3EBB76A4

Q34181410-DEEE657D-FBE2-4E9E-8A0A-0BC4F5150A5E

Q34181410-FF316175-71EF-4614-A0FD-62AC02D584A7

P2860

Q34181410-0BA7C472-E926-40D8-A7A6-9061D34644D1

Q34181410-175654A6-3655-4950-A181-0734B1ECCA31

Q34181410-19292DF2-6888-4364-9C95-E7D8CD850432

Q34181410-3764F161-F222-443C-BFAF-74A4528EA1BF

Q34181410-426072E0-5FEB-4C79-9D77-889E6F5F3070

Q34181410-4B84D6B4-7C1C-4D2C-9E60-2087DD681D2B

Q34181410-4C9A8B29-3D1D-4289-AEAB-D929E1870B31

Q34181410-641C2DEA-65F3-4B8A-B20A-52A21E0F343E

Q34181410-6B449BD4-0603-45B0-A390-8FC7B8F4B7C7

Q34181410-745A0854-AE1E-4099-8404-8A667F9FC14C

P304

Q34181410-0CE7E051-302B-4008-8BD0-24C805239229

P31

Q34181410-54D0FB28-073C-40F8-84E5-ABC787B1E659

P356

Q34181410-C908DCE8-E4D5-4C75-9B90-FE05CD66C9C5

P407

Q34181410-0ACE75DF-7352-4AD8-87CC-8C188F056670

P433

Q34181410-5B15CD35-01B1-4867-B181-634B0B998140

P478

Q34181410-1AECCC6E-A0BE-44B7-8866-C1FB6994DA2E

P577

Q34181410-0B271D65-76DF-4B6F-9E65-942A5C8B535C

P5875

Q34181410-E7B5CE2F-166E-4C97-A9EE-ABEF12E41159

P698

Q34181410-B1045F22-F1FD-429E-B90F-DD2D3834FDA7

P921

Q34181410-38479041-6E8B-4787-A714-F0F371F22063

P932

Q34181410-3099135B-923A-46E4-BBB8-887B9D4357E5

P356

JOURNAL.PONE.0027782

P1433

P1476

Copy number variations due to ...... chronic granulomatous disease.

@en

P2093

Hideaki Yamamoto

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

Hideki Ohno

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

Hiroyuki Nunoi

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

Junji Kamizono

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

Masahiko Uehara

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

Takako Kizaki

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

Takashi Arai

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

Takeo Kubota

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

Takuya Sakurai

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

Tsutomu Oh-ishi

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

P2860

Mechanisms of change in gene copy number

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Clinical aspects of chronic granulomatous disease.

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.

Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions.

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.

P304

e27782

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

P31

scholarly article

P356

10.1371/JOURNAL.PONE.0027782

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

P407

P433

2

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

P478

7

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

P577

2012-02-27T00:00:00Z

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

P5875

221882543

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

P698

22383943

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

P921

X-linked chronic granulomatous disease

P932

3287986

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