A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema

Keyphrases

• Pathogenic Variants 100%
• Autosomal Recessive 100%
• FLT4 100%
• Hereditary Lymphedema 100%
• Novel mutation 100%
• Autosomal Recessive Inheritance 100%
• Israeli 50%
• Muslims 50%
• Cysteine 50%
• Sequence Analysis 50%
• Extended Family 50%
• Common Variants 50%
• Null Effects 50%
• Consanguineous 50%
• LOD Score 50%
• Tyrosine Kinase 50%
• Lymphedema 50%
• Molecular Diagnostics 50%
• Autosomal Dominant 50%
• Tyrosine Kinase Activity 50%
• Secondary Lymphedema 50%
• Effect Mechanism 50%
• Exon 28 50%
• Mild Phenotype 50%
• Novel Missense Variant 50%
• Homozygosity Mapping 50%
• FLT4 Gene 50%
• Receptor Activity 50%
• Muslim Families 50%
• VEGFR-3 50%
• Sanger Sequencing 50%
• Variant Database 50%
• Whole-genome Linkage Analysis 50%
• Dominant Effect 50%
• Have-perfect 50%
• Tyrosine Kinase Domain 50%
• Congenital Lymphedema 50%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• Autosomal Recessive Inheritance 100%
• FLT4 100%
• Receptor Tyrosine Kinase 66%
• Protein Sequencing 33%
• Shotgun Sequencing 33%
• Homozygosity 33%
• Linkage Analysis 33%
• Exon 33%
• Missense 33%
• Autosomal Dominant Inheritance 33%
• Dominant Inheritance 33%
• Tyrosine Kinase 33%
• Serine 33%
• Cysteine 33%
• Dideoxynucleotide Sequencing 33%