Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.

作者信息

Muro S, Pérez B, Rodríguez-Pombo P, Desviat L R, Pérez-Cerdá C, Ugarte M

机构信息

Departamento de Biología Molecular, Centro de Biologia Molecular Severo Ochoa, Universidad Autónoma de Madrid, Cantoblanco, Spain.

出版信息

J Inherit Metab Dis. 2000 Jun;23(4):300-4. doi: 10.1023/a:1005617420460.

DOI:10.1023/a:1005617420460

PMID:10896279

Abstract

摘要

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本文引用的文献

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Hum Mutat. 1999;14(4):275-82. doi: 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N.

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

J Med Genet. 1999 May;36(5):412-4.

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Am J Hum Genet. 1998 Aug;63(2):360-9. doi: 10.1086/301970.

The two-hybrid system: an assay for protein-protein interactions.

Trends Genet. 1994 Aug;10(8):286-92. doi: 10.1016/0168-9525(90)90012-u.

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