(Q50133987)

25 February 2018

title

Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population. (English)

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25 February 2018

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1

George P Patrinos

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25 February 2018

author name string

Sjozef van Baal

series ordinal

2

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25 February 2018

Michael B Petersen

series ordinal

3

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25 February 2018

Manoussos N Papadakis

series ordinal

4

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25 February 2018

publication date

1 April 2005

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25 February 2018

published in

Human Mutation

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25 February 2018

volume

25

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25 February 2018

issue

4

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25 February 2018

page(s)

327-333

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25 February 2018

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

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1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20157

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Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals

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Familial Mediterranean fever associated pyrin mutations in Greece

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Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations

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Prenatal diagnosis of thalassemia and of the sickle cell syndromes in Greece

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Molecular Heterogeneity of the Glucose-6-Phosphate Dehydrogenase Deficiency in the Hellenic Population

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Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene.

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Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

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Scanning method to identify the molecular heterogeneity of delta-globin gene especially in delta-thalassemias: detection of three novel substitutions in the promoter region of the gene

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A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes

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Prevalence of hemochromatosis gene (HFE) mutations in Greece

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Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients

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CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

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7 January 2021

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20157

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25 February 2018

PubMed ID

15776445

1 reference

25 February 2018