✦ LIBER ✦

A new β0-thalassemia frameshift mutation [β 48 (-T)] in a Uruguayan family

✍ Scribed by J. Da Luz; P. López; E. M. Kimura; D. M. Albuquerque; F. F. Costa; M. Sans; M. F. Sonati

Book ID: 117965743
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 142 KB
Volume: 35
Category: Article
ISSN: 1751-5521
DOI: 10.1111/j.1751-553x.2012.01462.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new frameshift β°-thalassemia mutation

A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family

✍ Shiping Cai; David H. K. Chui; Judy Ng; Annette O. Poon; Melvin H. Freedman; Dr. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

A new pthalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSll-654 C+T p"-thalassemia mutation, has the phenotype of severe p-thalassemia major.

Identification of five rare mutations in

Identification of five rare mutations including a novel frameshift mutation causing β0-thalassemia in Thai patients with β0-thalassemia/hemoglobin E disease

✍ Winichagoon, Pranee; Fucharoen, Suthat; Wilairat, Prapon; Chihara, Kazuo; Fukuma 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 809 KB

A new frameshift mutation, insertion of

A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian proband

✍ Pawan K. Jain; Andrée M. Dozy; I. C. Verma; Farid F. Chehab 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB

Thalassemia β0 due to an identical frame

Thalassemia β0 due to an identical frameshift mutation, codon 15 (−T) in both parents

✍ Bani Gajra; Debasis Bandyopadhyay; Shila Chakrabarti; Bani Sengupta; Madhusnata 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB

New frameshift mutation, insertion of A,

New frameshift mutation, insertion of A, at codon 95 of the β-globin gene causes β-thalassemia in two Vietnamese families

✍ Shiping Cai; Farid F. Chehab 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB 👁 1 views

Identification of a novel frameshift mut

Identification of a novel frameshift mutation at codon 53 (−T) in the β-globin gene causing dominantly inherited β-thalassemia in a Chinese Miao family

✍ Peng Yi; Fang Yu; Shengwei Huang; Cunli Zhong; Qiang Li; Yuan Yang; Wenqing Zhan 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 600 KB