Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

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

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

American journal of human genetics - 1 Jan 1996

Vanier M T, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea E D

Abstract excerpt

The primary molecular defect underlying Niemann-Pick C disease (NPC) is still unknown. A wide spectrum of clinical and biochemical phenotypes has previously been documented. Indication of genetic heterogeneity has recently been provided for one patient. In the present study, somatic cell hybridiz...

Topics

Adolescent
Adult
Age Factors
Cells, Cultured
Child
Child, Preschool
Cholesterol
Chromosome Mapping
Chromosomes, Human, Pair 18
Female
Fetus
Fibroblasts
Filipin
Genetic Complementation Test
Genetic Linkage
Humans
Hybrid Cells
Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 8554047
PMCID: PMC1914948

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8554047-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 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.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics