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14q24.3

A chromosome band present on 14q
National Institutes of Health

Papers overview

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Review
2003
Review
2003
  • M. Vanier
  • Orphanet Journal of Rare Diseases
  • 2003
  • Corpus ID: 14753402
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of… 
Highly Cited
2000
Highly Cited
2000
Niemann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by defective egress of… 
Highly Cited
2000
Highly Cited
2000
Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous… 
Highly Cited
1998
Highly Cited
1998
Two closely related genes, the presenilins ( PS ), located at chromosomes 14q24.3 and 1q42.1, have been identified for autosomal… 
Highly Cited
1995
Highly Cited
1995
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3… 
Highly Cited
1995
Highly Cited
1995
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence… 
Highly Cited
1995
Highly Cited
1995
Genetic linkage studies have indicated that chromosome 14q24.3 harbours a major locus for early-onset (onset age <65 years… 
Highly Cited
1992
Highly Cited
1992
Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the β–amyloid protein precursor gene located in… 
Highly Cited
1992
Highly Cited
1992
Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes. Markers on…