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17q25.2-q25.3
A chromosome band present on 17q
National Institutes of Health
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Related topics
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4 relations
17q
CD7 wt Allele
Chromosomes
RECQL5 wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease
J. Gharesouran
,
Abbas Jalaiei
,
+8 authors
M. Rezazadeh
Metabolic brain disease
2020
Corpus ID: 219315338
Pompe disease (PD) is a rare autosomal recessive multi-systemic lysosomal storage disorder, caused by mutations in the acid alpha…
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2015
2015
Infantile Pompe Disease: Atypical Variant.
Thaís Rodrigues
,
C. Marrone
Journal of Neuromuscular Diseases
2015
Corpus ID: 9438948
Pompe disease (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in…
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2011
2011
S1.1 Introductory notes to Pompe disease and aims of the Meeting
S. Sampaolo
,
M. Simonetti
,
O. Farina
,
F. Cipullo
,
D. Diodato
Acta myologica
2011
Corpus ID: 26564318
A disease is considered rare when it has a prevalence in the general population below a given threshold, i.e., when few people…
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2001
2001
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RECQL5beta.
T. Ohhata
,
R. Araki
,
R. Fukumura
,
A. Kuroiwa
,
Y. Matsuda
,
M. Abe
Gene
2001
Corpus ID: 40447447
1996
1996
Sequence Analysis of the cDNA for the Human Casein Kinase I δ (CSNK1D) Gene and Its Chromosomal Localization
J. Kusuda
,
N. Hidari
,
M. Hirai
,
K. Hashimoto
1996
Corpus ID: 29875153
This article reports on the genetic mapping of a cDNA clone encoding human casein kinase I (CK1) using fluorescence in situ…
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1996
1996
Sequence analysis of the cDNA for the human casein kinase I delta (CSNK1D) gene and its chromosomal localization.
J. Kusuda
,
N. Hidari
,
M. Hirai
,
K. Hashimoto
Genomics
1996
Corpus ID: 263394917
A cDNA clone coding for human casein kinase I (CK1) has been isolated and sequenced. The insert of 1911 bp contained an open…
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