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SMA type 2 unrelated to chromosome 5q13
- Source :
- American journal of medical genetics. 75(2)
- Publication Year :
- 1998
-
Abstract
- We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (
- Subjects :
- Genetic Markers
Male
Intelligence
Locus (genetics)
Nerve Tissue Proteins
Biology
Genetic determinism
Muscular Atrophy, Spinal
medicine
Humans
Cyclic AMP Response Element-Binding Protein
Genetics (clinical)
Genetics
Haplotype
RNA-Binding Proteins
SMN Complex Proteins
Spinal muscular atrophy
Motor neuron
medicine.disease
SMA
Neuronal Apoptosis-Inhibitory Protein
medicine.anatomical_structure
Haplotypes
Genetic marker
Child, Preschool
Chromosomes, Human, Pair 5
NAIP
Gene Deletion
Subjects
Details
- ISSN :
- 01487299
- Volume :
- 75
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics
- Accession number :
- edsair.doi.dedup.....d0587cf5f67b9ccc0b80e803efdc28f9