Загрузка...

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

Inheritance of a single base mutation in the type III procollagen gene (COL3A1) was studied in a family with aortic aneurysms and easy bruisability. The mutation was a substitution of A for G+ 1 of intron 20 of the gene and caused aberrant splicing of RNA transcribed from the mutated allele. The phe...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Kontusaari, S, Tromp, G, Kuivaniemi, H, Ladda, R L, Prockop, D J
Формат: Artigo
Язык:Inglês
Опубликовано: 1990
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683756/
https://ncbi.nlm.nih.gov/pubmed/2349939
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!