(Q67482102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301943

10 September 2022

author name string

S. Kleiman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301943

10 September 2022

G. Schwartz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301943

10 September 2022

S. L. Woo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301943

10 September 2022

Y. Shiloh

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301943

10 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301943

10 September 2022

publication date

1 January 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

344-346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

A single origin of phenylketonuria in Yemenite Jews

13 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Phenylketonuria (PKU) in Israel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Heterogeneity of phenylketonuria at the clinical, protein and DNA levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

The structure and evolution of the human beta-globin gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Misalignment-mediated DNA synthesis errors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010414

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010414

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1301943%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference