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

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.

Molecular genetics and metabolism - 1 May 2002

Guimarães Carla P, Lemos Manuela, Sá-Miranda Clara, Azevedo Jorge E

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. The gene associated with X-ALD, ABCD1, encodes a peroxisomal ATP-binding cassette half-transporter. In this study, we describe the molecular characterization of 21 affected Portuguese families. The complete coding region of the ABCD1 gene was amplified by reverse transcription polymerase chain reaction (RT-PCR) or genomic...

Read the complete abstract on PubMed

Topics

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

Share to Adrenoleukodystrophy
Share to ATP Binding Cassette Transporter, Subfamily D, Member 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP-Binding Cassette Transporters

Share to Electrophoresis, Polyacrylamide Gel

Share to Fatty Acids

Share to Fibroblasts

Share to Polymerase Chain Reaction

Share to Portugal

Source

Identifiers

PMID: 12175782
DOI: 10.1016/s1096-7192(02)00023-9

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.PMID 12175782Read ↗

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.Semantic proximity Read ↗

Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India.Semantic proximity Read ↗

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.Semantic proximity Read ↗

ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy.Semantic proximity Read ↗

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

Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy.Semantic proximity Read ↗

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.Semantic proximity Read ↗

Three novel variants in X-linked adrenoleukodystrophy.Semantic proximity Read ↗

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.Semantic proximity Read ↗

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