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Article

A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

Pediatric neurology - 1 Apr 2014

Wada Takahito, Haddad Marie Reine, Yi Ling, Murakami Tomomi, Sasaki Akiko, Shimbo Hiroko, Kodama Hiroko, Osaka Hitoshi, Kaler Stephen G

Abstract excerpt

BACKGROUND: Determining the relationship between clinical phenotype and genotype in genetic diseases is important in clinical practice. In general, frameshift mutations are expected to produce premature termination codons, leading to production of mutant transcripts destined for degradation by no...

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Identifiers

PMID: 24630286
DOI: 10.1016/j.pediatrneurol.2014.01.005
PMCID: PMC3959660

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24630286-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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