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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel, Davor; Hisama, Fuki M; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A; Steele, Pamela D; Baldwin, Jennifer; Brown, W Ted; Piussan, Charles; Plauchu, Henri; Szilvássy, Judit; Horkay, Edit; Högel, Josef; Martin, George M; Herr, Alan J; Oshima, Junko; Kubisch, Christian.
Afiliação
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington.
  • Szakszon K; Department of Pediatrics, University of Debrecen, Debrecen, Hungary.
  • Saha B; Department of Pathology, University of Washington, Seattle, Washington.
  • Sanjuanelo AB; Department of Medicine, Universidad Del Norte-CINPE Group, Barranquilla, Colombia.
  • Salbert BA; Geisinger Medical Center, Danville, Pennsylvania.
  • Steele PD; Geisinger Medical Center, Danville, Pennsylvania.
  • Baldwin J; Department of Dermatology, University of Minnesota, Minnesota.
  • Brown WT; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York.
  • Piussan C; Pediatric Genetics, University of Amiens, Amiens, France.
  • Plauchu H; Département de Génétique, Université Claude Bernard Lyon 1 et Hôpital Louis Pradel, Hospices Civils de Lyon, F-69977, Bron CEDEX, France.
  • Szilvássy J; Department of Oto-Laryngology and Head and Neck Surgery, University of Debrecen, Debrecen, Hungary.
  • Horkay E; Diagnoscan Hungary, Debrecen, Hungary.
  • Högel J; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Martin GM; Department of Pathology, University of Washington, Seattle, Washington.
  • Herr AJ; Department of Pathology, University of Washington, Seattle, Washington.
  • Oshima J; Department of Pathology, University of Washington, Seattle, Washington.
  • Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Hum Mutat ; 36(11): 1070-9, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26172944
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Werner / Síndrome de Cockayne / Mutação em Linhagem Germinativa / DNA Polimerase III Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Werner / Síndrome de Cockayne / Mutação em Linhagem Germinativa / DNA Polimerase III Idioma: En Ano de publicação: 2015 Tipo de documento: Article