Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. - Wikidata - wikimedia - TriplyDB

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

http://www.wikidata.org/entity/Q33751724

about

Limb-girdle Muscular Dystrophies in India: A Review.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

P2860

Q33795491-B7BC9722-776A-49B2-956F-32F00DB26E15 Q37607062-E96289A1-7B37-46BC-88AF-7E1CDA6A3B7B

P2860

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

http://www.wikidata.org/entity/Q33751724

description

2016 nî lūn-bûn

@nan

2016 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի մարտին 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

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@ast

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@en

type

label

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@ast

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@en

prefLabel

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@ast

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@en

P1433

Q33751724-0408DEB9-B4E5-4F3F-BB5D-04787BC30CE0

P1476

Q33751724-920BA14A-907F-45F3-9861-3C542177CB57

P2093

Q33751724-33958808-7E1C-448C-A4D1-3E06EFDAB764

Q33751724-48DC395A-8C67-45DD-9095-C97433E0A251

Q33751724-797BAA6F-7D24-44CA-A244-7898B39AD5DC

Q33751724-857EE316-EDB3-458A-83C6-1E0C3D3D1B81

Q33751724-9E1145BE-03B9-4370-9752-D15517884CF4

Q33751724-9EFB685F-B10C-4AC1-AEF3-AA9BA04E1394

Q33751724-A3D643FB-88F4-4D7B-880A-DFFDD28BA53F

Q33751724-AD7F5D56-400B-421B-B491-5DF4BD89073E

Q33751724-BFB1E1B0-F6A1-4F16-9841-C2EB3A85E3E3

Q33751724-C32AB665-C8DF-4BD8-A6FA-D8B37CC3ACB0

P2860

Q33751724-00329D18-F2CA-4681-A0CB-4C9469ADE6CF

Q33751724-00516F65-B0CC-4082-800D-3994C9C2355C

Q33751724-022A847B-4989-4D96-97F9-3BF44D8A1CD5

Q33751724-06AA7CB8-7854-40AF-A178-D346B36B7E0E

Q33751724-0EC17B16-E3E3-4CC1-8341-21A42F16111E

Q33751724-1418C667-017D-4186-823B-7AFF7C1D1112

Q33751724-1F222370-802F-4F6F-A387-5948AE981FBF

Q33751724-265A44A3-B240-4E9F-9AF1-C3827718B49D

Q33751724-2947705B-8864-4D75-998C-A08D88516A45

Q33751724-3242C1D5-ED19-488D-9D51-8BB40BF34C18

P304

Q33751724-5B8B82E2-859A-4B8A-AA13-677688584237

P31

Q33751724-AF2A3C02-03A6-4CF6-B155-D7BB89DA1637

P356

Q33751724-CEE24E11-CAD2-40E4-B030-0BA8B5FBD82F

P433

Q33751724-41FE96DD-6D4F-4846-ACAF-7EAC8585BF25

P478

Q33751724-383BD476-CA94-4E8D-B013-0026F5EFB04E

P50

Q33751724-9DF0A357-6A14-4B41-AEA6-4EBEEF03CD01

P577

Q33751724-109B8B1A-1043-4312-9F51-FCFE6DAE7A70

P698

Q33751724-A5B98045-1B16-424A-B96E-EFDFE396AB41

P932

Q33751724-23D90AD1-94DD-41C5-A9C2-84EC6D6D3483

P356

P1433

Muscle and Nerve

P1476

Homozygous nonsense mutation i ...... ar dystrophy in Assiut, Egypt.

@en

P2093

Anna R Duncan

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

Daniel G Macarthur

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

Elicia Estrella

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

Hemakumar M Reddy

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

Kyung-Ah Cho

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

Lane J Mahoney

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

Louis M Kunkel

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

Michael D Jones

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

Monkol Lek

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

Peter B Kang

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

P2860

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

A method and server for predicting damaging missense mutations

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P304

690-695

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

P31

scholarly article

P356

10.1002/MUS.25094

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

P433

4

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

P478

54

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

P50

Sherifa A Hamed

P577

2016-03-02T00:00:00Z

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

P698

26934379

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

P932

5453499

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