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Article

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

Human molecular genetics - 1 Apr 2001

Nothwang H G, Kim H G, Aoki J, Geisterfer M, Kübart S, Wegner R D, van Moers A, Ashworth L K, Haaf T, Bell J, Arai H, Tommerup N, Ropers H H, Wirth J

Abstract excerpt

We report on the molecular characterization of a translocation t(1;19)(q21.3;q13.2) in a female with mental retardation, ataxia and atrophy of the brain. Sequence analysis of the breakpoints revealed an ALU:-repeat-mediated mechanism of recombination that led to truncation of two genes: the kinas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11285245
DOI: 10.1093/hmg/10.8.797

Genes

CLK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11285245-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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