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

Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.

Journal of biomedical science - 1 Jan 2000

Haider M Z, Moosa A, Dalal H, Habib Y, Reynold L

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of lower motor neurons. We have assayed deletions in two candidate genes, the survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes, in 108 samples, of which 46 were from SMA patients, and 62 were from unaffected subjects. The SMA patients included 3 from Bahrain, 9 from South Africa, 2 from...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Cyclic AMP Response Element-Binding Protein

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Ethnicity

Share to Gene Deletion

Share to Muscular Atrophy, Spinal

Share to Nerve Tissue Proteins

Share to RNA-Binding Proteins

Share to SMN Complex Proteins

Source

Identifiers

PMID: 11287750
DOI: 10.1007/BF02256412

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.PMID 11287750Read ↗

NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Semantic proximity Read ↗

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.Semantic proximity Read ↗

Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.Semantic proximity Read ↗

Deletion analysis of spinal muscular atrophy in southern Indian population.Semantic proximity Read ↗

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.Semantic proximity Read ↗

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.Semantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Semantic proximity Read ↗

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.Semantic proximity Read ↗

Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.Semantic proximity Read ↗

Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia.Semantic proximity Read ↗

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read ↗

Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.Semantic proximity Read ↗

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