Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).

The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a...

詳細記述

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書誌詳細
主要な著者: Taschner, P E, de Vos, N, Thompson, A D, Callen, D F, Doggett, N, Mole, S E, Dooley, T P, Barth, P G, Breuning, M H
フォーマット: Artigo
言語:Inglês
出版事項: 1995
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801154/
https://ncbi.nlm.nih.gov/pubmed/7887420
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