(Q77477081)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792407%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792407%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

Popescu T

1

1 reference

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5 December 2019

Blazkova M

2

1 reference

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5 December 2019

Kozak L

3

1 reference

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5 December 2019

Jebeleanu G

4

1 reference

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5 December 2019

Popescu A

5

1 reference

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5 December 2019

publication date

1 January 1998

1 reference

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5 December 2019

1 reference

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5 December 2019

volume

12

1 reference

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5 December 2019

issue

5

1 reference

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5 December 2019

page(s)

314-319

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9792407%20AND%20SRC:MED&resulttype=core&format=json

Molecular basis for nonphenylketonuria hyperphenylalaninemia

5 December 2019

cites work

1 reference

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Detection of the XmnI RFLP at the human PAH locus by PCR

21 January 2018

1 reference

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Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

21 January 2018

1 reference

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Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling

21 January 2018

1 reference

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Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias

21 January 2018

1 reference

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PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus

21 January 2018

1 reference

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A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria

21 January 2018

1 reference

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Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations

21 January 2018

1 reference

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Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia

21 January 2018

1 reference

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Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C314%3A%3AAID-HUMU4%3E3.0.CO%3B2-D

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

21 January 2018

1 reference

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A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

21 January 2018

1 reference

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Genotype-phenotype correlation in 11 Romanian PKU families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C314%3A%3AAID-HUMU4%3E3.0.CO%3B2-D

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C314%3A%3AAID-HUMU4%3E3.0.CO%3B2-D

PCR detection of the Mspl (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281998%2912%3A5%3C314%3A%3AAID-HUMU4%3E3.0.CO%3B2-D

10.1002/(SICI)1098-1004(1998)12:5<314::AID-HUMU4>3.0.CO;2-D

21 January 2018

Identifiers

DOI

0 references

1 reference