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SGCD gene
Known as:
CMD1L
, SARCOGLYCAN, DELTA
, sarcoglycan delta
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National Institutes of Health
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Related topics
Related topics
3 relations
Limb-girdle muscular dystrophy type 2F
SGCB gene
delta-Sarcoglycan
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F
S. Pasteuning-Vuhman
,
K. Putker
,
+6 authors
M. van Putten
PLoS ONE
2017
Corpus ID: 8710080
Limb-girdle muscular dystrophy types 2D and 2F (LGMD 2D and 2F) are autosomal recessive disorders caused by mutations in the…
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2017
2017
Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population
Jun Li
,
Shiwei Yang
,
+13 authors
Yu-ming Qin
OncoTarget
2017
Corpus ID: 4576991
As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR…
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2014
2014
Identification of proteins that interact with alpha A-crystallin using a human proteome microarray
Qi Fan
,
Lvtao Huang
,
+6 authors
Yi Lu
Molecular Vision
2014
Corpus ID: 9862084
Purpose To identify proteins interacting with alpha A-crystallin (CRYAA) and to investigate the potential role that these protein…
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Highly Cited
2008
Highly Cited
2008
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
M. Guglieri
,
F. Magri
,
+25 authors
G. Comi
Human Mutation
2008
Corpus ID: 23925842
Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12…
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2005
2005
The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs
P. Stabej
,
P. Leegwater
,
+5 authors
B. V. van Oost
Cytogenetic and Genome Research
2005
Corpus ID: 37903925
Dilated cardiomyopathy (DCM) is a common disease of the myocardium recognized in human, dog and experimental animals. Genetic…
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2000
2000
A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F
P. Dincer
,
C. Bönnemann
,
+4 authors
H. Topaloğlu
Neuromuscular Disorders
2000
Corpus ID: 54393252
Highly Cited
1999
Highly Cited
1999
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
M. Passos-Bueno
,
M. Vainzof
,
E. S. Moreira
,
Mayana Zatz
American journal of medical genetics
1999
Corpus ID: 10816824
The autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are a heterogeneous group of disorders of progressive…
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1999
1999
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies
I. Richard
,
N. Bourg
,
+10 authors
J. Beckmann
Neuromuscular Disorders
1999
Corpus ID: 22223975
Highly Cited
1998
Highly Cited
1998
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
E. S. Moreira
,
M. Vainzof
,
+4 authors
S. Anieflo
Journal of Medical Genetics
1998
Corpus ID: 6667189
Among the heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (AR LGMDs), the sarcoglycanopathies (LGMD2C…
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Review
1997
Review
1997
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
P. Dincer
,
F. Leturcq
,
+16 authors
Haluk Topaloàlu
Annals of Neurology
1997
Corpus ID: 28524591
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a clinically and genetically heterogenous group of diseases…
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