Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.

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作者信息

Pérez-Cerdá C, Rodríguez-Pombo P, Ugarte M

机构信息

Dept de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.

出版信息

J Inherit Metab Dis. 1994;17(6):661-3. doi: 10.1007/BF00712007.

DOI:10.1007/BF00712007

PMID:7707688

Abstract

摘要

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引用本文的文献

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.人类丙酰辅酶A羧化酶β亚基基因：西班牙和拉丁美洲丙酸血症患者的外显子-内含子界定及突变谱

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

本文引用的文献

J Inherit Metab Dis. 1993;16(2):353-60. doi: 10.1007/BF00710282.

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.

J Inherit Metab Dis. 1993;16(5):863-7. doi: 10.1007/BF00714279.

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.西班牙的苯丙酮尿症：限制性片段长度多态性单倍型和连锁突变

Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468.

Two distinct mutations at the same site in the PCCB gene in propionic acidemia.丙酸血症中PCCB基因同一位点的两种不同突变。

Genomics. 1990 Oct;8(2):249-54. doi: 10.1016/0888-7543(90)90279-4.

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.编码丙酰辅酶A羧化酶β亚基的基因中一种不寻常的插入/缺失是白种人丙酸血症中常见的突变。

Proc Natl Acad Sci U S A. 1990 Feb;87(4):1372-6. doi: 10.1073/pnas.87.4.1372.

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