✦ LIBER ✦

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

✍ Scribed by Simons, Cas; Wolf, Nicole I.; McNeil, Nathan; Caldovic, Ljubica; Devaney, Joseph M.; Takanohashi, Asako; Crawford, Joanna; Ru, Kelin; Grimmond, Sean M.; Miller, David; Tonduti, Davide; Schmidt, Johanna L.; Chudnow, Robert S.; van Coster, Rudy; Lagae, Lieven; Kisler, Jill; Sperner, Jürgen; van der Knaap, Marjo S.; Schiffmann, Raphael; Taft, Ryan J.; Vanderver, Adeline

Book ID: 121322653
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 572 KB
Volume: 92
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.03.018

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel TUBB4A mutations and expansion of

Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

✍ Ferreira, Carlos; Poretti, Andrea; Cohen, Julie; Hamosh, Ada; Naidu, Sakkubai 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 246 KB

O41 – 1941 Mutation spectrum and clinica

O41 – 1941 Mutation spectrum and clinical characteristics in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

✍ Hamilton, EM; Vanderver, A; Siriwardena, K; Pinelli, L; Schiffmann, R; Blaser, S 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 70 KB

A novel mutation in the β-tubulin gene T

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

✍ ROMINA ROMANIELLO; ALESSANDRA TONELLI; FILIPPO ARRIGONI; CINZIA BASCHIROTTO; FAB 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB

De novo mutation of the β-globin gene in

De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European

✍ Waye, John S.; Eng, Barry; Patterson, Margaret; Barr, Ronald D.; Chui, David H. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB 👁 1 views

We present a case of ␤-thalassemia intermedia involving a 13-year-old boy of Northern European descent. His mother, father and older sister have normal hematologic indices. Molecular studies demonstrate that the proband carries a novel mutation of the ␤-globin gene initiation codon (ATG→AAG) which s

De novo initiation codon mutation (ATG→A

De novo initiation codon mutation (ATG→ACG) of the β-globin gene causing β-thalassemia in a swiss family

✍ P. Beris; R. Darbellay; D. Speiser; V. Kirchner; P. A. Miescher 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 562 KB

A novel and de novo spontaneous point mu

A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia

✍ Tarantino, Michael D.; Curtis, Sharon M.; Johnson, G. Stephan; Waye, John S.; Bl 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 108 KB 👁 2 views

We describe a novel, de novo point mutation in one antithrombin (AT) allele resulting in type I AT deficiency and thrombophilia. Low plasma AT activity as well as low plasma AT antigen were documented in the propositus, but not in the parents, or in a male sibling. AT gene analysis by sequencing pol