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Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.
Rommel, Kathrin; Karck, Matthias; Haverich, Axel; Schmidtke, Jörg; Arslan-Kirchner, Mine.
Affiliation
  • Rommel K; Institute of Human Genetics, Medizinische Hochschule Hannover, D-30623 Hannover, Germany.
Hum Mutat ; 20(5): 406-7, 2002 Nov.
Article in En | MEDLINE | ID: mdl-12402346
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Collection: 01-internacional Database: MEDLINE Main subject: Marfan Syndrome / Microfilament Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2002 Document type: Article Affiliation country: Germany Country of publication: United States
Search on Google
Add to My VHL
Print
XML
PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Marfan Syndrome / Microfilament Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2002 Document type: Article Affiliation country: Germany Country of publication: United States