Načítá se...

Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia

Propionic acidaemia (PA) is an autosomal recessive disease caused by a genetic deficiency of propionyl-CoA carboxylase (PCC). Defects in the PCCA and PCCB genes that code for the α and β subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170i...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Muro, S, Perez-Cerda, C, Rodriguez-Pombo, P, Perez, B, Briones, P, Ribes, A, Ugarte, M
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 1999
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734372/
https://ncbi.nlm.nih.gov/pubmed/10353789
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!