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2p16.3

A chromosome band present on 2p
National Institutes of Health

Related topics

Related topics

5 relations
Chromosome 2 Short ArmChromosomesFBXO11 wt AlleleSLC3A1 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Deleciones intragénicas NRXN1: aportación de tres nuevos casos y revisión del fenotipo
Las neurexinas son moleculas de adhesion neuronales que se localizan presinapticamente e interactuan con las neuroliguinas… 
2011
2011
S01. Ptosis, arched eyebrows, hypernasal speech, obesity and mild learning disability - a clinical & mapping study.
We report 15 members of a three generation pedigree with ptosis, velopharyngeal incompetence, dysmorphism and a learning… 
2010
2010
Reply to Liu et al.: Differential effects of chromosome 2p16.3 variants on glaucoma in African derived populations
We appreciate the letter by Liu et al. (1) and commend them on their work (1). We are encouraged that they have confirmed… 
2009
2009
2009 FIVE NOVEL MUTATIONS IN CYSTINURIA GENES SLC 3 A 1 AND SLC 7 A 9
Cystinuria is an autosomal recessive disorder that is characterized by impaired transport of cystine, lysine, ornithine and… 
1996
1996
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
We have established rBAT (named as SLC3A1 in the Genome Data Base) as a gene responsible for cystinuria, a heritable disorder of… 
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