<p>*The number in parenthesis in the status column shows the number of patients; New mutations are in bold.</p><p>The identified mutations in the <i>TYR</i> gene from OCA1 patients in our study.</p
Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An in...
<p>Y = Yes; N = No. Nomenclature according to HGVS.</p><p>Details of Patients' mutation.</p
Ovarian cancer is one of the most severe of oncological diseases. Inherited mutations in cancer susc...
<p>Bar diagram indicates the percentage of mutations that were found in this study.</p
<p>* new mutation found in the present study</p><p>Mutations identified in OI patients.</p
<p><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0106656#pone.0106656-Stenso...
<p>Changes also seen in the father are shown on the left, while those inherited from the mother are ...
<p>* Genes in bold are recurrent mutations, with the number in parentheses being the other samples h...
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting fr...
Item does not contain fulltextOculocutaneous albinism (OCA) is a heterogeneous group of autosomal re...
Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by abs...
<p>Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.</p
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
OBJECTIVES:To report the initial experience of an international group of investigators in identifyin...
<p>Coding mutations in known cancer genes (A) and candidate genes (B) are indicated with different c...
Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An in...
<p>Y = Yes; N = No. Nomenclature according to HGVS.</p><p>Details of Patients' mutation.</p
Ovarian cancer is one of the most severe of oncological diseases. Inherited mutations in cancer susc...
<p>Bar diagram indicates the percentage of mutations that were found in this study.</p
<p>* new mutation found in the present study</p><p>Mutations identified in OI patients.</p
<p><a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0106656#pone.0106656-Stenso...
<p>Changes also seen in the father are shown on the left, while those inherited from the mother are ...
<p>* Genes in bold are recurrent mutations, with the number in parentheses being the other samples h...
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting fr...
Item does not contain fulltextOculocutaneous albinism (OCA) is a heterogeneous group of autosomal re...
Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by abs...
<p>Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.</p
Cartoon diagrams of RAD52, BRCA2, BRCA1 and PALB2 showing specific domains in each gene. The diagram...
OBJECTIVES:To report the initial experience of an international group of investigators in identifyin...
<p>Coding mutations in known cancer genes (A) and candidate genes (B) are indicated with different c...
Germline mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. An in...
<p>Y = Yes; N = No. Nomenclature according to HGVS.</p><p>Details of Patients' mutation.</p
Ovarian cancer is one of the most severe of oncological diseases. Inherited mutations in cancer susc...