Two frequent missense mutations in Pendred syndrome

Autor: S. Srisailapathy, Arabandi Ramesh, N.L. Dietrich, Eric D. Green, Agnete Parving, Carrie Ris-Stalpers, Lorraine A. Everett, C.H.H.M. Bolder, P. van Hauwe, M.L. Kraft, Barto J. Otten, G. Van Camp, Daryl A. Scott, C.W.R.J. Cremers, J. J. M. De Vijlder, Paul Coucke, P.H.G.M. Willems, Richard J.H. Smith

Publikováno v: Human Molecular Genetics, 7, pp. 1099-1104
Human molecular genetics
Human molecular genetics, 7(7), 1099-1104. Oxford University Press
Human Molecular Genetics, 7, 1099-1104

Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the disease gene ( PDS ) was mapped to chromosome 7q22-q31.1 and, recently, fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a8941345a7105b5b9af71835080121
https://doi.org/10.1093/hmg/7.7.1099

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

Autor: T. van Agtmael, P. van Hauwe, Y. Kabakkaya, P. J. Willems, Agnete Parving, Richard J.H. Smith, Paul Coucke, Wendy Balemans, G. Van Camp, Osman Demirhan, C.W.R.J. Cremers, C.H.H.M. Bolder

Publikováno v: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 40, 1, pp. 48-54
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 48-54
STARTPAGE=48;ENDPAGE=54;ISSN=0888-7543;TITLE=Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 40, pp. 48-54
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 40, 48-54
Genomics: international journal of gene mapping and nucleotide sequencing

PubMedID: 9070918 Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital deafness. The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::943f7f09894b2a4bed6710fcde352fbb
https://pubmed.ncbi.nlm.nih.gov/9070918