𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Hb Filottrano [codon 120 (–A)]: A Novel Frameshift Mutation in Exon 3 of the β-Globin Gene Causing Dominantly Inherited β-Thalassemia Intermedia

✍ Scribed by Amato, Antonio; Cappabianca, Maria Pia; Perri, Maria; Zaghis, Ivo; Mastropietro, Fabrizio; Ponzini, Donatella; Di Biagio, Paola; Piscitelli, Roberta

Book ID
115527297
Publisher
Informa plc
Year
2012
Tongue
English
Weight
374 KB
Volume
36
Category
Article
ISSN
0363-0269

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Initiation codon mutation (ATG → ATA) of
Initiation codon mutation (ATG → ATA) of the β-globin gene causing β-thalassemia in a Swedish family
✍ Dr. Britta Landin; Olle Rudolphi; BÖRje Ek 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 436 KB 👁 1 views

An initiation codon mutation ATG-ATA of the p-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a p

Identification of two novel β°-thalassem
Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion
✍ Barry Eng; David H. K. Chui; Janet Saunderson; Nancy F. Olivieri; John S. Waye 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 467 KB

The frequency of P-thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations represented in this population. Here, we describe a Filipino family in which a child has severe P-thalassemia major. Molecular studies of the family revealed that the p