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5q13

A chromosome band present on 5q
National Institutes of Health

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6 relations
ChromosomesF2R wt AllelePOLK wt AlleleRAD17 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A Case Report of a Pregnant Gene Carrier of Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by degeneration of spinal cord… 
2013
2013
Molecular analysis of SMN 1 , SMN 2 , NAIP , GTF 2 H 2 , and H 4 F 5 genes in 157 Chinese patients with spinal muscular atrophy ☆
Abbreviations: DHPLC, denaturing high-performance l general transcription factor IIH, polypeptide 2 gene;H4F5, h or 1000 bp; MLPA… 
Review
2011
Review
2011
TCL1B (T-cell leukemia/lymphoma 1B)
Review on TCL1B (T-cell leukemia/lymphoma 1B), with data on DNA, on the protein encoded, and where the gene is implicated. 
Review
2009
Review
2009
Genetic Basis of Thoracic Aortic Aneurysms and Dissections : Focus on Smooth Muscle Cell Contractile Dysfunction
Here we review the evidence for positive selection in the human genome and its role in human evolution and population… 
2009
2009
Molekulare Analyse der epigenetischen Regulation der SMN2-Genaktivität in der Pathogenese der spinalen Muskelatrophie (SMA)
Die wichtigsten Mechanismen der epigenetischen Genregulation sind die Methylierung von DNA an Cytosinbasen in CpG-Dinukleotiden… 
2005
2005
Deletions Among Singaporean Patients With Spinal Muscular Atrophy
1 Genetics Service Department of Paediatric Medicine KK Women’s and Children’s Hospital, Singapore Address for Reprints: Dr… 
2004
2004
[Neonatal muscular spinal atrophy: a case report].
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to… 
2000
2000
Acute leukemia in Jehovah's Witnesses: a challenge for hematologists.
With the aim of demonstrating the possibility of treating acute leukemia in Jehovah's Witnesses by protocols which include a… 
1999
1999
Complete nucleotide sequence, genomic organization, and promoter analysis of the murine survival motor neuron gene (Smn)
In humans, loss or mutation of the Survival Motor Neuron (SMN)gene is responsible for proximal spinal muscular atrophy (SMA),the… 
1997
1997
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the… 
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