✦ LIBER ✦

A point mutation in the FMR-1 gene associated with fragile X mental retardation

✍ Scribed by De Boulle, Kristel; Verkerk, Annemieke J.M.H.; Reyniers, Edwin; Vits, Lieve; Hendrickx, Jan; Van Roy, Bernadette; Van Den Bos, Feikje; de Graaff, Esther; Oostra, Ben A.; Willems, Patrick J.

Book ID: 109914886
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 630 KB
Volume: 3
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0193-31

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutational analysis of the FMR1 gene in

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

✍ K. Grønskov; Anni Hallberg; Karen Brøndum-Nielsen 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 104 KB

Severe mental retardation and macroorchi

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

✍ Reyniers, Edwin; Wolff, Gerhard; Tariverdian, Gholamali; De Boulle, Kristel; Sto 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 533 KB

Only one missense mutation, an Ile304Asn, has been reported in the fragile X gene (FMR1). This mutation is located in the second KH domain of FMR1, and has led to the discovery of the function of the FMRl gene product as an RNA-binding protein. The patient carrying this mutation has profound mental

A novel mutation in JARID1C gene associa

A novel mutation in JARID1C gene associated with mental retardation

✍ Santos, Cristina; Rodriguez-Revenga, Laia; Madrigal, Irene; Badenas, Celia; Pine 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 172 KB

Impact of the Fragile X mental retardati

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: A controlled study

✍ Cary S. Kogan; Jeremy Turk; Randi J. Hagerman; Kim M. Cornish 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 150 KB 👁 2 views

Fragile x mental retardation (Fmr-1) gen

Fragile x mental retardation (Fmr-1) gene expression is down regulated in brain of mice during aging

✍ Kanchan Singh; Pankaj Gaur; S. Prasad 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 346 KB

A genetic screen for mutations in genes,

A genetic screen for mutations in genes, interacting with fragile X mental retardation 1 in Drosophila melanogaster (dfmr1)

✍ D. Georgieva; G. Genova 📂 Article 📅 2010 🏛 Elsevier 🌐 English ⚖ 80 KB