Haplotype distribution and mutations at the PAH locus in Croatia (Q67522970)

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14 September 2019

title

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

1 reference

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14 September 2019

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I Barić

1

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14 September 2019

D Mardesić

2

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14 September 2019

G Gjurić

3

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14 September 2019

V Sarnavka

4

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14 September 2019

B Göbel-Schreiner

5

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14 September 2019

U Lichter-Konecki

6

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14 September 2019

D S Konecki

7

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14 September 2019

F K Trefz

8

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14 September 2019

publication date

1 September 1992

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14 September 2019

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14 September 2019

volume

90

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14 September 2019

issue

1-2

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14 September 2019

page(s)

155-157

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

14 September 2019

cites work

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12 December 2020

Phenylketonuria missense mutations in the Mediterranean

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

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

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

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

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12 December 2020

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

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

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

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

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12 December 2020

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

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CpG dinucleotides are mutation hot spots in phenylketonuria

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

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

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Phenylketonuria mutation in southern Europeans

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