Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others.

Kuivaniemi, H; Kontusaari, S; Tromp, G; Zhao, M J; Sabol, C; Prockop, D J

Kuivaniemi, H; Kontusaari, S; Tromp, G; Zhao, M J; Sabol, C; Prockop, D J.

Affiliation

Kuivaniemi H; Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

J Biol Chem ; 265(20): 12067-74, 1990 Jul 15.

Article in En | MEDLINE | ID: mdl-2365710

Subject(s)

Adenine; Ehlers-Danlos Syndrome/genetics; Exons; Genes; Guanine; Introns; Mutation; Procollagen/genetics; RNA Splicing; Adult; Calorimetry; Cloning, Molecular; Female; Genetic Variation; Humans; Male; Polymerase Chain Reaction; Pregnancy; RNA Probes; RNA, Small Nuclear/genetics; RNA, Small Nuclear/metabolism; Templates, Genetic

Search on Google

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Adenine / Introns / RNA Splicing / Exons / Procollagen / Ehlers-Danlos Syndrome / Genes / Guanine / Mutation Limits: Adult / Female / Humans / Male / Pregnancy Language: En Journal: J Biol Chem Year: 1990 Type: Article

Search on Google

XML

PubMed Links