MOLECULAR GENETICS OF FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD): MECHANISM OF 4q35 CHROMOSOMAL REARRANGEMENTS, CORRELATION BETWEEN DELETION SIZE AND CLINICAL PHENOTYPES AND EFFECT OF THE DELETION OF KPN-I REPEATS ON THE EXPRESSION OF THE ELUSIVE ….
- 2 Anni 1997/1999
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Pubblicazioni Scientifiche
- 1999 NEUROMUSCULAR DISORDERS
Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease
- 1999 ANNALS OF NEUROLOGY
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype