(Q41663202)

6 October 2017

title

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe (English)

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

19 November 2022

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

19 November 2022

1 reference

Aulehla-Scholz C

2

1 reference

6 October 2017

Bartholomé K

4

1 reference

6 October 2017

B. Dworniczak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 2022

C. Aulehla-Scholz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 2022

L. Kalaydjieva

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 2022

K. Bartholomé

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 2022

K. Grudda

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 2022

J. Horst

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1769645

19 November 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=1769645

19 November 2022

publication date

1 October 1991

1 reference

full work available at URL

6 October 2017

https://api.elsevier.com/content/article/PII:0888754391901293?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

https://api.elsevier.com/content/article/PII:0888754391901293?httpAccept=text/plain

19 November 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

19 November 2022

1 reference

6 October 2017

volume

11

1 reference

6 October 2017

issue

2

1 reference

6 October 2017

page(s)

242-246

1 reference

CpG dinucleotides are mutation hot spots in phenylketonuria

6 October 2017

cites work

1

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Phenylketonuria: distribution of DNA diagnostic patterns in German families

19 November 2022

2

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia

19 November 2022

3

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Organization and expression of eucaryotic split genes coding for proteins

19 November 2022

4

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

19 November 2022

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

19 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

19 November 2022

8

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

19 November 2022

9

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

19 November 2022

10

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

19 November 2022

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität

19 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations

19 November 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Geographical distribution gradients of the major PKU mutations and the linked haplotypes

19 November 2022

15

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

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

19 November 2022

16

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

DNA haplotype analysis at the phenylalanine hydroxylase locus in the Turkish population

19 November 2022

17

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

A role for exon sequences and splice-site proximity in splice-site selection

19 November 2022

18

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

19 November 2022

21

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90129-3

19 November 2022

Identifiers

1 reference

6 October 2017

1 reference