(Q43984652)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Giuseppe Saglio

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

author name string

I Dianzani

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

C Camaschella

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

G B Ferrero

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

R Cerone

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

C Romano

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

G Romeo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M Giovannini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

E Riva

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

publication date

1 November 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

69-72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00205176

22 September 2019

exact match

0 references

cites work

Molecular biology of phenylketonuria

1 reference

12 December 2020

Screening for malignant phenylketonuria

1 reference

12 December 2020

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

1 reference

12 December 2020

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France

1 reference

12 December 2020

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

1 reference

12 December 2020

RFLPs of the phenylalanine hydroxylase gene in the Italian population

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening

1 reference

12 December 2020

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU)

1 reference

12 December 2020

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

1 reference

12 December 2020

Linkage disequilibrium in finite populations

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria: distribution of DNA diagnostic patterns in German families

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00205176

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1979309%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 September 2019

0 references

1 reference