Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome-Reference-Cited by-同舟云学术

Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome

Author:

Salah G. Ben¹,Salem I. Hadj¹,Masmoudi A.²,Rhouma B. Ben¹,Turki H.³,Fakhfakh F.¹,Ayadi H.³,Kamoun H.¹⁴

Affiliation:

1. Laboratory of Human Molecular Genetics; Faculty of Medicine; University of Sfax; Sfax Tunisia

2. Department of Dermatology; Hedi Chaker Hospital of Sfax; Sfax Tunisia

3. Center of Biotechnology; University of Sfax; Sfax Tunisia

4. Medical genetics Unit; Hedi Chaker Hospital of Sfax; Sfax Tunisia

Funder

Ministry of Higher Education and Scientific Research

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

Reference33 articles.

1. Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome;Diaz;Horm Res,2006

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