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  • Title: Linkage analysis of the Rett syndrome using human chromosomal specific probes.
    Author: Anvret M, Johansson IM, Wahlström J, Hagberg B.
    Journal: Brain Dev; 1985; 7(3):361-4. PubMed ID: 3864385.
    Abstract:
    Restriction fragment length polymorphic (RFLP) human DNA probes have been used for linkage analysis in families with the Rett syndrome. A cytogenetic marker could be detected in 6 out of 14 cases of the Rett syndrome in the region of Xp22, and a deletion was seen in one severe case. Informative results were obtained with two of the chromosomal specific DNA probes, 99.6 and D2, in two different families.
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