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17q25.2-q25.3

A chromosome band present on 17q
National Institutes of Health

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4 relations
17qCD7 wt AlleleChromosomesRECQL5 wt Allele

Papers overview

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2020
2020
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease
Pompe disease (PD) is a rare autosomal recessive multi-systemic lysosomal storage disorder, caused by mutations in the acid alpha… 
Review
2019
Review
2019
Molecular genetics of Pompe disease: a comprehensive overview.
Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA… 
2015
2015
Infantile Pompe Disease: Atypical Variant.
Pompe disease (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in… 
2011
2011
S1.1 Introductory notes to Pompe disease and aims of the Meeting
A disease is considered rare when it has a prevalence in the general population below a given threshold, i.e., when few people… 
2008
2008
Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results
SummaryPompe disease (glycogen storage disease II, OMIM # 232300), is a hereditary lysosomal disorder. It is characterized by… 
2001
2001
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RECQL5beta.
1996
1996
Sequence Analysis of the cDNA for the Human Casein Kinase I δ (CSNK1D) Gene and Its Chromosomal Localization
This article reports on the genetic mapping of a cDNA clone encoding human casein kinase I (CK1) using fluorescence in situ… 
1996
1996
Sequence analysis of the cDNA for the human casein kinase I delta (CSNK1D) gene and its chromosomal localization.
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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