✦ LIBER ✦

Transmission distortion of the mutant alleles in spinocerebellar ataxia

✍ Scribed by Olaf Riess; Jörg T. Epplen; Georgios Amoiridis; Horst Przuntek; L. Schöls

Book ID: 106136573
Publisher: Springer
Year: 1997
Tongue: English
Weight: 27 KB
Volume: 99
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050355

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Machado Joseph disease is not an allele

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus

✍ Elspeth C. Twist; Lindsay A. Farrer; Patrick M. Macleod; Joao Radvany; Susan Cha 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 398 KB

Unbiased transmission of mutant alleles

Unbiased transmission of mutant alleles at the human retinoblastoma locus

✍ Stephanie B. Seminara; Thaddeus P. Dryja 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 429 KB

The preferential transmission of the mutant allele to offspring from fathers who carry a germline mutation in the retinoblastoma gene was examined by analyzing 46 consecutive pedigrees. Among 75 offspring from 29 fathers, the ratio of carriers to noncarriers was 49%. Among the 106 offspring from 55

The Recognition of Facial Emotions in Sp

The Recognition of Facial Emotions in Spinocerebellar Ataxia Patients

✍ Federico D’Agata; Paola Caroppo; Bruno Baudino; Marcella Caglio; Michela Croce; 📂 Article 📅 2011 🏛 Springer-Verlag 🌐 English ⚖ 262 KB

Repeat expansion in spinocerebellar atax

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach

✍ Tomiuk, Jürgen; Bachmann, Lutz; Bauer, Claudia; Rolfs, Arndt; Schöls, Ludger; Ro 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 143 KB

Repeat expansion in spinocerebellar atax

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach

✍ Tomiuk, Jürgen; Bachmann, Lutz; Bauer, Claudia; Rolfs, Arndt; Schöls, Ludger; Ro 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 33 KB

The occurrence of dominant spinocerebell

The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population

✍ V. Juvonen; M. Hietala; V. Kairisto; M.-L. Savontaus 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB