(Q67522970)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358784%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

title

Haplotype distribution and mutations at the PAH locus in Croatia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358784%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

0 references

I Barić

1

1 reference

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14 September 2019

D Mardesić

2

1 reference

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14 September 2019

G Gjurić

3

1 reference

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14 September 2019

V Sarnavka

4

1 reference

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14 September 2019

B Göbel-Schreiner

5

1 reference

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14 September 2019

U Lichter-Konecki

6

1 reference

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14 September 2019

D S Konecki

7

1 reference

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14 September 2019

F K Trefz

8

1 reference

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14 September 2019

publication date

1 September 1992

1 reference

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14 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358784%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

volume

90

1 reference

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14 September 2019

issue

1-2

1 reference

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14 September 2019

page(s)

155-157

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00210763

14 September 2019

exact match

0 references

cites work

Genetic analysis of the proximal portion of the mouse t complex: evidence for a second inversion within t haplotypes

1 reference

12 December 2020

Phenylketonuria missense mutations in the Mediterranean

1 reference

12 December 2020

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

1 reference

12 December 2020

Two mutations within the coding sequence of the phenylalanine hydroxylase gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

12 December 2020

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

1 reference

12 December 2020

Phenylalaninaemia. Differential diagnosis

1 reference

12 December 2020

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

1 reference

12 December 2020

Molecular basis and population genetics of phenylketonuria

1 reference

12 December 2020

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations

1 reference

12 December 2020

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

1 reference

12 December 2020

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct DNA analysis in family studies.

1 reference

12 December 2020

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

12 December 2020

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

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

Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

1 reference

12 December 2020

CpG dinucleotides are mutation hot spots in phenylketonuria

1 reference

12 December 2020

Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenylketonuria mutation in southern Europeans

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210763

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1358784%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 September 2019

0 references

1 reference