TY  - GEN
AU  - Clermont,Olivier
AU  - Burlet,Philippe
AU  - Benit,Paule
AU  - Chanterau,Dominique
AU  - Saugier-Veber,Pascale
AU  - Munnich,Arnold
AU  - Cusin,Veronica
TI  - Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
SN  - 1098-1004
PY  - 2005///0729
KW  - Automation
KW  - Chromatography, High Pressure Liquid
KW  - Chromosomes, Human, Pair 5
KW  - genetics
KW  - Cyclic AMP Response Element-Binding Protein
KW  - DNA Mutational Analysis
KW  - methods
KW  - Genetic Testing
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Molecular Sequence Data
KW  - Muscular Atrophy, Spinal
KW  - Mutation
KW  - Nerve Tissue Proteins
KW  - Polymerase Chain Reaction
KW  - RNA-Binding Proteins
KW  - SMN Complex Proteins
KW  - Sensitivity and Specificity
KW  - Sequence Deletion
KW  - Survival of Motor Neuron 1 Protein
KW  - Survival of Motor Neuron 2 Protein
KW  - Time Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20092
ER  -