✦ LIBER ✦

A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population

✍ Scribed by L. P. W. J. van den Heuvel; Bernadette Luiten; J. A. M. Smeitink; Johanneke F. de Rijk-van Andel; Keith Hyland; Gerry C. H. Steenbergen-Spanjers; R. J. T. Janssen; R. A. Wevers

Book ID: 106136969
Publisher: Springer
Year: 1998
Tongue: English
Weight: 73 KB
Volume: 102
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050756

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A splice mutation in the GTP cyclohydrol

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping

✍ M. Skrygan; B. Bartholomé; L. Bonafé; N. Blau; K. Bartholomé 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 74 KB

Autosomal recessive deafness 1A (DFNB1A)

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

✍ Barashkov, Nikolay A; Dzhemileva, Lilya U; Fedorova, Sardana A; Teryutin, Fedor 📂 Article 📅 2011 🏛 Nature Publishing Group 🌐 English ⚖ 616 KB