<p>*Novel mutations are indicated in boldface.</p>§<p>Individual with detectable <i>WFS1</i> mutation in single chromosome.</p><p><i>WFS1</i> mutations in each patient with WFS.</p
<p>VCF files describing the mutations contained in the sixty-seven groups of BRCA1 reads. These were...
SummaryWolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juveni...
§<p>Novel variations.</p><p>Mutations in Indian patients with Factor V deficiency.</p
<p>Clinical features of affected family members associated with <i>WFS1</i> mutations found in this ...
<p>*M, male; F, female; DM, diabetes mellitus; OA, optic atrophy; D, deafness; DI, diabetes insipidu...
<p>The relative positions of WFS1 mutations within the putative WFS1 protein topology are indicated....
mutations to clinical manifestations in Japanese patients with WFS. was performed by direct sequenc...
<p>Arrows show the probands in each family. Genetic findings for each individual tested are noted in...
<p>* Genes in bold are recurrent mutations, with the number in parentheses being the other samples h...
<p>Mutation nomenclature follows the recommended guidelines of the Human Genome Variation Society wi...
<p>A. Schematic structure of the <i>LEF1</i> gene. B-C.Point mutations of <i>LEF1</i> in exon 2 (B) ...
<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
<p>*The number in parenthesis in the status column shows the number of patients; New mutations are i...
<p>Mutations included in the kits used for the molecular diagnosis of CF patients.</p
Background: Candidate von Willebrand factor (VWF) mutations were identified in 70% of index cases in...
<p>VCF files describing the mutations contained in the sixty-seven groups of BRCA1 reads. These were...
SummaryWolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juveni...
§<p>Novel variations.</p><p>Mutations in Indian patients with Factor V deficiency.</p
<p>Clinical features of affected family members associated with <i>WFS1</i> mutations found in this ...
<p>*M, male; F, female; DM, diabetes mellitus; OA, optic atrophy; D, deafness; DI, diabetes insipidu...
<p>The relative positions of WFS1 mutations within the putative WFS1 protein topology are indicated....
mutations to clinical manifestations in Japanese patients with WFS. was performed by direct sequenc...
<p>Arrows show the probands in each family. Genetic findings for each individual tested are noted in...
<p>* Genes in bold are recurrent mutations, with the number in parentheses being the other samples h...
<p>Mutation nomenclature follows the recommended guidelines of the Human Genome Variation Society wi...
<p>A. Schematic structure of the <i>LEF1</i> gene. B-C.Point mutations of <i>LEF1</i> in exon 2 (B) ...
<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
<p>*The number in parenthesis in the status column shows the number of patients; New mutations are i...
<p>Mutations included in the kits used for the molecular diagnosis of CF patients.</p
Background: Candidate von Willebrand factor (VWF) mutations were identified in 70% of index cases in...
<p>VCF files describing the mutations contained in the sixty-seven groups of BRCA1 reads. These were...
SummaryWolfram syndrome is an autosomal recessive neurodegenerative disorder characterized by juveni...
§<p>Novel variations.</p><p>Mutations in Indian patients with Factor V deficiency.</p