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 intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.

Clinical genetics - 1 Dec 2012

Fanin M, Benedicenti F, Fritegotto C, Nascimbeni A C, Peterle E, Stanzial F, Cristofoletti A, Castellan C, Angelini C

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Calpain
Share to Consanguinity
Share to Introns
Share to Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Proteins

Share to Muscular Dystrophies, Limb-Girdle

Share to Pedigree

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 22486197
DOI: 10.1111/j.1399-0004.2012.01873.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.PMID 22486197Read ↗

Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family membersSemantic proximity Read ↗

Application of linked markers for genetic diagnosis of Alport syndrome.Semantic proximity Read ↗

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.Semantic proximity Read ↗

A case of tibial hemimelia in a German Galloway calf is associated with a novel mutation in the ALX4 gene.Semantic proximity Read ↗

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritisSemantic proximity Read ↗

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene.Semantic proximity Read ↗

Alport syndrome--clinical phenotypes, incidence, and pathology.Semantic proximity Read ↗

Molecular diagnosis of Alport syndrome: the experience in Siena.Semantic proximity Read ↗

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