𝔖 Bobbio Scriptorium
✦   LIBER   ✦

DNA deletion and its parental origin in Angelman syndrome patients

✍ Scribed by Hamabe, Jun-Ichi ;Kuroki, Yoshikazu ;Imaizumi, Kiyoshi ;Sugimoto, Tateo ;Fukushima, Yoshimitsu ;Yamaguchi, Atsuko ;Izumikawa, Yoshinori ;Niikawa, Norio

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
505 KB
Volume
41
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Parental origin of chromosome 4p deletio
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome
✍ Dallapiccola, Bruno ;Mandich, Paola ;Bellone, Emilia ;Selicorni, Angelo ;Mokin, πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 338 KB πŸ‘ 2 views

## Abstract We report on molecular studies in 7 patients with Wolf‐Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These

Novel UBE3A mutations causing Angelman s
Novel UBE3A mutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
✍ Cristina CamprubΓ­; Miriam Guitart; Elisabeth Gabau; Maria Dolors Coll; Sergi Vil πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 148 KB πŸ‘ 2 views

## Abstract Angelman syndrome (AS) is a genetic disorder caused by a deficiency of __UBE3A__ imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the __UBE3A__ gene. In two large Spanish series of clinically str