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
91.929€ Totale Fondi

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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

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