| http://purl.uniprot.org/citations/16583127 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16583127 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16583127 | http://www.w3.org/2000/01/rdf-schema#comment | "X-linked hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by the hypoplasia or absence of eccrine glands, dry skin, scant hair, and dental abnormalities. Here, we report a Mongolian family with congenital absence of teeth inherited in an X-linked fashion. The affected members of the family did not show other HED characteristics, except hypodontia. We successfully mapped the affected locus to chromosome Xq12-q13.1, and then found a novel missense mutation, c.193C>G, in the ectodysplasin A (EDA) gene in all affected males and carrier females. The mutation causes arginine to be replaced by glycine in codon 65 (R65G) in the juxtamembrane region of EDA. In addition, 33% (3/9) of female carriers have a skewed X-chromosome inactivation pattern. Our result strongly suggests that the c.193C>G mutation is the disease-causing mutation in this family."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10038-006-0389-2"xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10038-006-0389-2"xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Li T."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Li T."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Liu L."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Liu L."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Yan Y."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Yan Y."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Xu J."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Xu J."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "He L."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "He L."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Tao R."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Tao R."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Jin B."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Jin B."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Brooks D.G."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Brooks D.G."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Feng G.Y."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Feng G.Y."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Guo S.Z."xsd:string |
| http://purl.uniprot.org/citations/16583127 | http://purl.uniprot.org/core/author | "Guo S.Z."xsd:string |