Differential SMN2 expression associated with SMA severity

[1] Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 1971 - 1976

[2] A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS [J]. NATURE GENETICS, 1995, 11 (03) : 335 - 337

[3] Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) : 40 - 50

[4] FRANCIS J, IN PRESS P NATL ACAD

[5] Hahnen E, 1996, AM J HUM GENET, V59, P1057

[6] Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA) [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 821 - 825

[7] IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE [J]. CELL, 1995, 80 (01) : 155 - 165

[8] SMN oligomerization defect correlates with spinal muscular atrophy severity [J]. NATURE GENETICS, 1998, 19 (01) : 63 - 66

[9] Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) : 1411 - 1422

[10] An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (11) : 1727 - 1732

[1] Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 1971 - 1976

[2] A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS [J]. NATURE GENETICS, 1995, 11 (03) : 335 - 337

[3] Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) : 40 - 50

[4] FRANCIS J, IN PRESS P NATL ACAD

[5] Hahnen E, 1996, AM J HUM GENET, V59, P1057

[6] Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA) [J]. HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 821 - 825

[7] IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE [J]. CELL, 1995, 80 (01) : 155 - 165

[8] SMN oligomerization defect correlates with spinal muscular atrophy severity [J]. NATURE GENETICS, 1998, 19 (01) : 63 - 66

[9] Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) : 1411 - 1422

[10] An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (11) : 1727 - 1732