Literature DB >> 1301952

A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.

L Saba1, A Meloni, R Sardu, M Travi, P Primignani, M C Rosatelli, A Cao.   

Abstract

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Year:  1992        PMID: 1301952     DOI: 10.1002/humu.1380010512

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


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  2 in total

1.  A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.

Authors:  E A Sistermans; I J de Wijs; R F de Coo; L M Smit; F H Menko; B A van Oost
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

Review 2.  The molecular basis of β-thalassemia.

Authors:  Swee Lay Thein
Journal:  Cold Spring Harb Perspect Med       Date:  2013-05-01       Impact factor: 6.915

  2 in total

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