(Q72135322)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

C Pérez-Cerdá

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

P Rodríguez-Pombo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

M Ugarte

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 January 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

24 October 2019

published in

1 reference

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24 October 2019

volume

17

1 reference

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24 October 2019

issue

6

1 reference

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24 October 2019

page(s)

661-663

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia

24 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia

1 reference

12 December 2020

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

1 reference

12 December 2020

Two distinct mutations at the same site in the PCCB gene in propionic acidemia

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00712007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7707688%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference