Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.

Advances in experimental medicine and biology - 1 Jan 2000

Yamada Y, Goto H, Ogasawara N

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to AMP Deaminase
Share to Erythrocytes
Share to Genetic Testing
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Point Mutation

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 11783530
DOI: 10.1007/0-306-46843-3_13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Erythrocyte amp deaminase deficiency in Japanese: a compound heterozygote responsible for the complete deficiency.PMID 11783530Read ↗

[Inherited AMP-deaminase deficiency--molecular basis of the defect].Semantic proximity Read ↗

Adenosine deaminase deficiency: molecular basis and recent developments.Semantic proximity Read ↗

[AMP deaminase deficiency].Semantic proximity Read ↗

Gene mutations for human erythrocyte AMP deaminase deficiency.Semantic proximity Read ↗

Overview of Biochemical Abnormalities and Molecular Genetics of Adenosine Deaminase DeficiencySemantic proximity Read ↗

Molecular biology of AMP deaminase deficiency.Semantic proximity Read ↗

[Adenosine deaminase (ADA) deficiency, partial ADA deficiency].Semantic proximity Read ↗

Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.Semantic proximity Read ↗

[Defect of thiamine transport and activation and related disease].Semantic proximity Read ↗

[Family of AMP-deaminase genes].Semantic proximity Read ↗

Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency.Semantic proximity Read ↗

Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.