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Article

De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy.

International journal of hematology - 1 Feb 2014

Strmecki Lana, Hudler Petra, Benedik-Dolničar Majda, Komel Radovan

Abstract excerpt

We report an unusual case of a patient with two combined X-linked diseases, severe hemophilia A (HA) and Duchenne muscular dystrophy (DMD), of which only HA was hereditary. There was no family history of muscular dystrophy. Genetic analysis revealed that HA was caused by the hereditary coagulatio...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24318042
DOI: 10.1007/s12185-013-1488-4

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24318042-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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