GENOTYPE-PHENOTYPE CORRELATIONS IN SPINAL MUSCULAR ATROPHY (SMA): MUTATIONS OF THE SMA-ASSOCIATED GENES AND THEIR EFFECTS ON THE PHENOTYPE
- 2 Anni 1995/1997
- 82.633€ Totale Fondi
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Pubblicazioni Scientifiche
- 1995-08-04 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
SURVIVAL MOTOR-NEURON GENE TRANSCRIPT ANALYSIS IN MUSCLES FROM SPINAL MUSCULAR-ATROPHY PATIENTS
- 1996-04-01 CLINICAL CHEMISTRY
DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies
- 1996-01-01 CYTOGENETICS AND CELL GENETICS
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization
- 1996-02-01 HUMAN GENETICS
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells
- 1996-03-01 MUSCLE & NERVE
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families
- 1996-08-01 NEUROMUSCULAR DISORDERS
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
