✦ LIBER ✦

A mutation in the 5′ untranslated region of the human α-galactosidase A gene in high-activity variants inhibits specific protein binding

✍ Scribed by Zubaida Saifudeen; Robert J. Desnick; Melanie Ehrlich

Book ID: 115931240
Publisher: Elsevier Science
Year: 1995
Tongue: English
Weight: 457 KB
Volume: 371
Category: Article
ISSN: 0014-5793
DOI: 10.1016/0014-5793(95)00891-c

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Frequency of 5'untranslated region singl

Frequency of 5'untranslated region single nucleotide polymorphisms of the α-galactosidase a gene in the Portuguese population

✍ S. Ferreira; J. Barceló; F. Carvalho; J.P. Oliveira 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 126 KB

Pelizaeus-Merzbacher disease: A novel mu

Pelizaeus-Merzbacher disease: A novel mutation in the 5′-untranslated region of the proteolipid protein gene

✍ Chiaki Kawanishi; Naoya Sugiyama; Hitoshi Osaka; Ken Inoue; Kyoko Suzuki; Hideki 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 2 views

Effect of single-nucleotide polymorphism

Effect of single-nucleotide polymorphisms of the 5′ untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians

✍ J. P. Oliveira; S. Ferreira; J. Barceló; P. Gaspar; F. Carvalho; M. C. Sá Mirand 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 164 KB

Point mutations in the upstream region o

Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease

✍ Satoshi Ishii; Hitoshi Sakuraba; Yoshiyuki Suzuki 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 513 KB

Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. They both expressed marked

Highly conserved sequences in the 3′-unt

Highly conserved sequences in the 3′-untranslated region of the COL1A1 gene bind cell-specific nuclear proteins

✍ Arto Määttå; Paul Bornstein; Risto P.K. Penttinen 📂 Article 📅 1991 🏛 Elsevier Science 🌐 English ⚖ 690 KB

Mutation of a Nuclear Respiratory Factor

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

✍ S. Marie; V. Race; M.-C. Nassogne; M.-F. Vincent; G. Van den Berghe 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 1007 KB