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Article

A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.

Journal of the neurological sciences - 15 Jan 2007

Kuroda Ryo, Satoh Junichi, Yamamura Takashi, Anezaki Toshiharu, Terada Tatsuhiro, Yamazaki Kinya, Obi Tomokazu, Mizoguchi Kouichi

Abstract excerpt

A 34-year-old woman showed clinical features characteristic of Nasu-Hakola disease (NHD), also designated polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). The genetic analysis of the DAP12 gene (TYROBP) identified two heterozygous mutations composed of a previously reported single base deletion of 141G (141delG) in exon 3 and a novel single base substitution of G262T in exon...

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Source

Identifiers

PMID: 17125796
DOI: 10.1016/j.jns.2006.09.019

Genes

TYROBP

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.

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