Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

The involvement of the cartilage specific type II collagen gene (COL2A1) was studied in nine patients with diastrophic dysplasia in the Finnish population, where the prevalence of this chondrodystrophy clearly exceeds that reported for other populations. COL2A1 was chosen as the candidate gene based...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Elima, K, Kaitila, I, Mikonoja, L, Elonsalo, U, Peltonen, L, Vuorio, E
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1989
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015598/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2732992/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.5.314
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker