Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria.

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Article

Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nocturnal hemoglobinuria.

Blood - 15 Feb 1995

Yamada N, Miyata T, Maeda K, Kitani T, Takeda J, Kinoshita T

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematologic disorder caused by deficient biosynthesis of the glycosylphosphatidylinositol (GPI) anchor. PIG-A, an X-linked gene that participates in the first step of GPI-anchor synthesis, is responsible for PNH. Abnormalities of the PIG-A gene have been demonstrated in all patients with PNH that have been studied to date. In this study, we analyzed...

Topics

Antigens, CD
Base Sequence
CD59 Antigens
Cell Line
Codon
Complement Inactivator Proteins
DNA Primers
DNA Transposable Elements
Female
Flow Cytometry
Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glycosylphosphatidylinositols

Hemoglobinuria, Paroxysmal

Humans

Japan

Lymphocytes

Male

Membrane Glycoproteins

Source

Open in PubMed

Identifiers

PMID: 7531514

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7531514-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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