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ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene

✍ Scribed by G Masè; S Ros; A Gemma; L Bonfigli; N Carraro; G Cazzato; M Rolfo; F Zanconati; J Sepcic; A Jurjevic; D Pirulli; M Boniotto; S Zezlina; S Crovella; A Amoroso


Book ID
119465481
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
150 KB
Volume
191
Category
Article
ISSN
0022-510X

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Different ocular abnormalities in indivi
✍ Yana Syagailo; Klaus Wilke; Olga Okladnova; Antonin Eigel; Marta Lemmens; Vladim 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 2 views

PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene, excha