<p>(A) QF-PCR and (B) MLPA dosage quotients showed an apparent heterozygous “deletion” of <i>CFH</i> exons 22 and 23 in II:8 (unaffected carrier), III:3 (unaffected carrier), III:6 (affected), and IV:1 (affected). There was no evidence of a “deletion” in III:1 and III:7 (both unaffected).</p
Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator...
<p>M, DL2000 Marker; 1, +94 C/C genotype; 2, +94 A/A genotype; 3, +94 A/C genotype.</p
Copyright © 2014 Vassos Neocleous et al. This is an open access article distributed under the Creati...
<div><p>(A) Inverted <i>CFH</i> exons 20–23 cDNA sequence showing the site of the first-round forwar...
<div><p>(A) Sequence of unique PCR product generated with specific <i>CFH</i> (forward) and <i>CFHL1...
<p>For CFH single nucleotides polymorphisms rs1061170, rs800292, and rs12144939 and for CFB rs415166...
We report the case of a patient with an apparent homozygosity for the D1152H mutation located in exo...
<p>A) cfDNA variant allele percentage is correlated with liver metastasis variant allele percentage ...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
<p>(A) Comparative RT-PCR analysis of fresh blood RNA samples obtained from 3 healthy control indivi...
Background Sequence analysis of the regulators of complement activation (RCA) cluster of genes at ch...
<p>Substitution of cytosine (C) by thymine (T) at <i>MTHFR</i> C677T creates a restriction site for ...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator...
<p>M, DL2000 Marker; 1, +94 C/C genotype; 2, +94 A/A genotype; 3, +94 A/C genotype.</p
Copyright © 2014 Vassos Neocleous et al. This is an open access article distributed under the Creati...
<div><p>(A) Inverted <i>CFH</i> exons 20–23 cDNA sequence showing the site of the first-round forwar...
<div><p>(A) Sequence of unique PCR product generated with specific <i>CFH</i> (forward) and <i>CFHL1...
<p>For CFH single nucleotides polymorphisms rs1061170, rs800292, and rs12144939 and for CFB rs415166...
We report the case of a patient with an apparent homozygosity for the D1152H mutation located in exo...
<p>A) cfDNA variant allele percentage is correlated with liver metastasis variant allele percentage ...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibro...
<p>(A) Comparative RT-PCR analysis of fresh blood RNA samples obtained from 3 healthy control indivi...
Background Sequence analysis of the regulators of complement activation (RCA) cluster of genes at ch...
<p>Substitution of cytosine (C) by thymine (T) at <i>MTHFR</i> C677T creates a restriction site for ...
<p>(A, B) Comparison of the sequence chromatograms of a compound heterozygous <i>GJB2</i> c.235delC ...
<p>In Family A, male patients show c.947A>G transition that is predicted to result in a p.D316G subs...
Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator...
<p>M, DL2000 Marker; 1, +94 C/C genotype; 2, +94 A/A genotype; 3, +94 A/C genotype.</p
Copyright © 2014 Vassos Neocleous et al. This is an open access article distributed under the Creati...