Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.

doi:10.1016/0092-8674(94)90136-8

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

Back to search

Article

Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.

Cell - 17 Jun 1994

Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco A P

Abstract excerpt

McLeod syndrome is an X-linked multisystem disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. We have assembled a cosmid contig of 360 kb that encompasses the McLeod gene locus. A 50 kb deletion was detected by screening DNA from patients with radiolabeled whole cosmids, and two transcription units were identified within this deletion. The mRNA expression pattern of one of...

Topics

Amino Acid Sequence
Amino Acid Transport Systems, Neutral
Animals
Base Sequence
Biological Transport
Carrier Proteins
Chromosomes, Artificial, Yeast
DNA
Hematologic Diseases
Humans
Kell Blood-Group System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Molecular Sequence Data

Neuromuscular Diseases

Ornithine Carbamoyltransferase

Phenotype

Point Mutation

Protein Conformation

Source

Open in PubMed

Identifiers

PMID: 8004674
DOI: 10.1016/0092-8674(94)90136-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8004674-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein.PMID 8004674Read ↗

Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases.Semantic proximity Read ↗

Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome.Semantic proximity Read ↗

Two McLeod patients with novel mutations in XK.Semantic proximity Read ↗

Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis SyndromesSemantic proximity Read ↗

Novel c.435delC mutation in XK gene found in a Taiwanese patient with McLeod syndrome.Semantic proximity Read ↗

McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.Semantic proximity Read ↗

McLeod syndrome with a novel XK frameshift mutation: A case report.Semantic proximity Read ↗

Analysis of deletions in three McLeod patients: exclusion of the XS locus from the Xp21.1-Xp21.2 region.Semantic proximity Read ↗

A novel c.82insC (p.Tyr28Leufs85X) mutation in the XK gene associated with the McLeod phenotype.Semantic proximity Read ↗

A novel mutation of the McLeod syndrome gene in a Japanese family.Semantic proximity Read ↗

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.Semantic proximity Read ↗

Three new XK alleles; two associated with a McLeod RBC phenotype.Semantic proximity Read ↗

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