...ELN) in patients with non-syndromic supravalvular aortic stenosis (SVAS) from a total of eight unrelated families. Six n...
...ELN gene. The simultaneous visualization and quantification of ELN splice variants by gene scanning enabled the analysis...
...Eln-/-). At birth, the distal air sacs of Eln-/- lungs dilate to form abnormally large cavities. This phenotype appears ...
...ELN17 microsatellite marker mapped within the ELN gene to look for a possible contribution of this region to the suscept...
...ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the f...
...ELN cDNA sequences of all three affected individuals. Transcripts from both alleles in each kindred were unstable and re...
...ELN locus. The mother was diagnosed after the identification of WBS in her affected son. She is deceased and was thus no...
...ELN, but the genes contributing to the other features of WBS are still undetermined. Fifteen genes have been shown to re...
...ELN group. In terms of peripheral hemodynamics, both the E and ELN groups demonstrated significant progressive decreases...
...ELN gene D7S1870; IFNA D1S243 (1p36) which show microsatellite variation. Isotopic labelling in amplification, non-denat...
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