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

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree

1 Jan 2016

Abstract excerpt

OBJECTIVES: mutation. METHODS: Targeted molecular analysis was initially performed in three affected individuals in one family suspected to have X-ALD due to chronic progressive spasticity. Upon confirmation of genetic diagnosis, further neurologic and genetic evaluation of all family members was done. RESULTS: was identified in 35 affected individuals (out 96 pedigree members). The c. 253dup, in exon 1, leads to...

Read the complete abstract on PubMed

Topics

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

Share to Adipose Tissue and Metabolism
Share to Neurological diseases and metabolism
Share to Peroxisome Proliferator-Activated Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 27489563
DOI: 10.4172/1747-0862.1000222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous PedigreePMID 27489563Read ↗

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.Semantic proximity Read ↗

[Clinical features and genetic analysis of a Chinese pedigree affected with X-linked adrenoleukodystrophy].Semantic proximity Read ↗

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.Semantic proximity Read ↗

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.Semantic proximity Read ↗

Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy.Semantic proximity Read ↗

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees With X‐linked Adrenoleukodystrophy and Review of the LiteraturesSemantic proximity Read ↗

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.Semantic proximity Read ↗

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.Semantic proximity Read ↗

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.Semantic proximity Read ↗

Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophySemantic proximity Read ↗

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.Semantic proximity Read ↗

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