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Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Kontusaari, S; Tromp, G; Kuivaniemi, H; Stolle, C; Pope, F M; Prockop, D J.
Affiliation
  • Kontusaari S; Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107.
Am J Hum Genet ; 51(3): 497-507, 1992 Sep.
Article in En | MEDLINE | ID: mdl-1496983
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Procollagen / Ehlers-Danlos Syndrome / Mosaicism Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Am J Hum Genet Year: 1992 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Procollagen / Ehlers-Danlos Syndrome / Mosaicism Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans Language: En Journal: Am J Hum Genet Year: 1992 Type: Article