<p>A. Schematic structure of the <i>LEF1</i> gene. B-C.Point mutations of <i>LEF1</i> in exon 2 (B) and exon 3 (C).</p
More than 200 predicted mutations in the CF gene have been defined among CF patients by members of t...
<p>(a) Sanger sequencing detected the inserted base in the <i>EXT1</i> gene of all affected subjects...
<p></p><p></p><p></p><p><i>Note</i>:<i>- Combined EGFR mutation stands for mutation at least was fou...
<p>A: A partial sequence of PCR product of Patient II-3 is shown. Compound heterozygous frame shift ...
<p>Only exonic mutations are shown. The position of the mutations are indicated relative to the firs...
PURPOSE: To analyze the spectrum and frequency of NF1 mutations in exon 10b. METHODS: Mutation and s...
<div><p>(A) Mutations are limited to the first four exons (exons 18–21) of the tyrosine kinase (TK) ...
<p>Mutations of the Papillon-Lefévre patients. Nucleotides are numbered according to the coding DNA ...
<p>Black boxes represent the exons. Lanes linking exons indicate introns. Dashed lines indicate the ...
Structural variation (SV) is typically defined as variation within the human genome that exceeds 50 ...
<p>Biallelic mutations identified in DFNB genes using a whole exome sequencing strategy.</p
*<p>:The cases with both E19 (E746–A750) and E21 (L858R) mutations were not counted twice.</p><p>Oth...
<p>*Nucleotide location number was assigned according to the low-density lipoprotein receptor (<i>LD...
The bioinformatics information on the LOF variants of candidate genes and patients.</p
<p><b>S.No.1</b>–<b>5:</b> Mutations identified by direct sequencing analysis of <i>RPE65</i>.</p><p...
More than 200 predicted mutations in the CF gene have been defined among CF patients by members of t...
<p>(a) Sanger sequencing detected the inserted base in the <i>EXT1</i> gene of all affected subjects...
<p></p><p></p><p></p><p><i>Note</i>:<i>- Combined EGFR mutation stands for mutation at least was fou...
<p>A: A partial sequence of PCR product of Patient II-3 is shown. Compound heterozygous frame shift ...
<p>Only exonic mutations are shown. The position of the mutations are indicated relative to the firs...
PURPOSE: To analyze the spectrum and frequency of NF1 mutations in exon 10b. METHODS: Mutation and s...
<div><p>(A) Mutations are limited to the first four exons (exons 18–21) of the tyrosine kinase (TK) ...
<p>Mutations of the Papillon-Lefévre patients. Nucleotides are numbered according to the coding DNA ...
<p>Black boxes represent the exons. Lanes linking exons indicate introns. Dashed lines indicate the ...
Structural variation (SV) is typically defined as variation within the human genome that exceeds 50 ...
<p>Biallelic mutations identified in DFNB genes using a whole exome sequencing strategy.</p
*<p>:The cases with both E19 (E746–A750) and E21 (L858R) mutations were not counted twice.</p><p>Oth...
<p>*Nucleotide location number was assigned according to the low-density lipoprotein receptor (<i>LD...
The bioinformatics information on the LOF variants of candidate genes and patients.</p
<p><b>S.No.1</b>–<b>5:</b> Mutations identified by direct sequencing analysis of <i>RPE65</i>.</p><p...
More than 200 predicted mutations in the CF gene have been defined among CF patients by members of t...
<p>(a) Sanger sequencing detected the inserted base in the <i>EXT1</i> gene of all affected subjects...
<p></p><p></p><p></p><p><i>Note</i>:<i>- Combined EGFR mutation stands for mutation at least was fou...
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