𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

✍ Scribed by Cherine Charfeddine; Mourad Mokni; Selma Kassar; Hela Zribi; Chiraz Bouchlaka; Samir Boubaker; Ahmed Rebai; Amel Ben Osman; Sonia Abdelhak

Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
201 KB
Volume
51
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Association of ADHD with genetic variant
Association of ADHD with genetic variants in the 5′-region of the dopamine transporter gene: Evidence for allelic heterogeneity
✍ K.J. Brookes; X. Xu; R. Anney; B. Franke; K. Zhou; Wai Chen; T. Banaschewski; J. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB 👁 2 views

## Abstract Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10‐repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3′‐untranslated region (3′UTR) of the dopamine transporter gene (__DAT1__). Yet, recent meta‐analy

Estimation of the frequency of occult mu
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders
✍ William J. Kimberling 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 1 views

The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of

Analysis of the ϵ-sarcoglycan gene in fa
Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity
✍ Enza-Maria Valente; Anjum Misbahuddin; Francesco Brancati; Mark R. Placzek; Barb 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 315 KB

## Abstract The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with aut