| scholarly article | Q13442814 |
| P2093 | author name string | K E Davies | |
| L Campbell | |||
| M J Francis | |||
| K E Morrison | |||
| Z Christodoulou | |||
| R J Daniels | |||
| A M Nesbit | |||
| A M Theodosiou | |||
| P2860 | cites work | Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann Disease | Q44860290 |
| High resolution physical map of the region surrounding the spinal muscular atrophy gene | Q46176535 | ||
| A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. | Q48082600 | ||
| Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3. | Q48084747 | ||
| A clinical and genetic study of chronic proximal spinal muscular atrophy | Q48442528 | ||
| Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681 | Q57272466 | ||
| Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q | Q59059683 | ||
| Genetic homogeneity between acute and chronic forms of spinal muscular atrophy | Q59092681 | ||
| Refined Linkage Map of Chromosome 5 in the Region of the Spinal Muscular Atrophy Gene | Q59273996 | ||
| Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14 | Q59274006 | ||
| Clinical and genetic heterogeneity in spinal muscular atrophy--the multiple allele model | Q67895765 | ||
| Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B | Q70600206 | ||
| Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population | Q72017400 | ||
| Linkage mapping of the spinal muscular atrophy gene | Q72286548 | ||
| De novo and inherited deletions of the 5q13 region in spinal muscular atrophies | Q72679218 | ||
| Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA) | Q72921438 | ||
| Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways | Q24299771 | ||
| Cloning, sequencing, and expression of cDNA for human beta-glucuronidase | Q24617413 | ||
| Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity | Q24669886 | ||
| Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes | Q24671806 | ||
| Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 | Q28280414 | ||
| Prenatal prediction of spinal muscular atrophy | Q33593825 | ||
| Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence | Q33671695 | ||
| Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling | Q33672149 | ||
| Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val. | Q33770884 | ||
| Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. | Q35195494 | ||
| Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5 | Q35196340 | ||
| High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5 | Q35199420 | ||
| Construction of yeast artificial chromosome libraries with large inserts using fractionation by pulsed-field gel electrophoresis | Q35225775 | ||
| Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers | Q35888978 | ||
| Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region | Q36432110 | ||
| Androgen responsiveness of the murine beta-glucuronidase gene is associated with nuclease hypersensitivity, protein binding, and haplotype-specific sequence diversity within intron 9. | Q36741107 | ||
| A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. | Q36772838 | ||
| Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency | Q37718189 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | muscular atrophy | Q2844600 |
| spinal muscular atrophy | Q580290 | ||
| nervous system development | Q1345738 | ||
| Putative inactive beta-glucuronidase-like protein SMA3 | Q21118225 | ||
| P304 | page(s) | 1209-1217 | |
| P577 | publication date | 1994-12-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13 | |
| P478 | volume | 55 |
| Q24561688 | Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene |
| Q42668853 | Gene deletions in spinal muscular atrophy |
| Q33675701 | Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele |
| Q43105089 | Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype |
| Q90139882 | Human core duplicon gene families: game changers or game players? |
| Q42589888 | Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. |
| Q34386159 | Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family |
| Q24675777 | Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth |
| Q41128421 | Molecular genetics of autosomal recessive spinal muscular atrophy |
| Q34998054 | Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation |
| Q78005515 | Spinal muscular atrophy |
| Q48039599 | The spinal muscular atrophy gene region at 5q13.1 has a paralogous chromosomal region at 6p21.3. |
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