A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report ; volume:17 ; number:1 ; day:25 ; month:3 ; year:2024 ; pages:1-10 ; date:12.2024
BMC medical genomics ; 17, Heft 1 (25.3.2024), 1-10, 12.2024

Creator: Malekkou, Anna
Tomazou, Marios
Mavrikiou, Gavriella
Dionysiou, Maria
Georgiou, Theodoros
Papaevripidou, Ioannis
Alexandrou, Angelos
Sismani, Carolina
Drousiotou, Anthi
Grafakou, Olga
Petrou, Petros P.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-024-01846-2

URN: urn:nbn:de:101:1-2405271030123.673485028719

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:02 AM CEST

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Associated

Malekkou, Anna
Tomazou, Marios
Mavrikiou, Gavriella
Dionysiou, Maria
Georgiou, Theodoros
Papaevripidou, Ioannis
Alexandrou, Angelos
Sismani, Carolina
Drousiotou, Anthi
Grafakou, Olga
Petrou, Petros P.
SpringerLink (Online service)

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Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

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A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

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Other Objects (12)

Molecular analysis of a large novel deletion causing α+-thalassemia

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

Identification of human D lactate dehydrogenase deficiency

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST

Enhanced Eryptosis in Glucose-6-Phosphate Dehydrogenase Deficiency

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Molecular analysis of a large novel deletion causing α+-thalassemia

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

Identification of human D lactate dehydrogenase deficiency

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST

Enhanced Eryptosis in Glucose-6-Phosphate Dehydrogenase Deficiency

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Molecular analysis of a large novel deletion causing α+-thalassemia

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

Identification of human D lactate dehydrogenase deficiency

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST

Enhanced Eryptosis in Glucose-6-Phosphate Dehydrogenase Deficiency

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency

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