| scholarly article | Q13442814 |
| P2093 | author name string | A C Syvänen | |
| I Järvelä | |||
| P B Munroe | |||
| S E Mole | |||
| H M Mitchison | |||
| A M O'Rawe | |||
| P2860 | cites work | Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium | Q28288921 |
| Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes | Q35643282 | ||
| Neuronal ceroid-lipofuscinoses in childhood | Q39649997 | ||
| Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. | Q44879755 | ||
| Preferential PCR amplification of alleles: mechanisms and solutions | Q46582300 | ||
| Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland | Q47296707 | ||
| Isolation of a novel gene underlying batten disease, CLN3 | Q56804260 | ||
| Prenatal diagnosis of Batten's disease | Q60672837 | ||
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | diagnosis | Q16644043 |
| P304 | page(s) | 1041-1042 | |
| P577 | publication date | 1996-12-01 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | Rapid diagnostic test for the major mutation underlying Batten disease | |
| P478 | volume | 33 |
| Q93331473 | Autophagic vacuolar myopathy is a common feature of CLN3 disease |
| Q24310339 | Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease |
| Q24291928 | Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs) |
| Q35790328 | Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease |
| Q50312496 | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil |
| Q34238611 | Molecular genetic testing for neuronal ceroid lipofuscinoses |
| Q49043230 | Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis |
| Q33679791 | Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. |
| Q48717064 | Sleep alterations in juvenile neuronal ceroid-lipofuscinosis |
| Q34182582 | The Finnish Disease Heritage III: the individual diseases |
| Q77421409 | The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses |
| Q34137740 | Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP. |
| Q33735875 | [18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis. |
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