A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7

التفاصيل البيبلوغرافية
العنوان: A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7
المؤلفون: RB Wheeler, RM Gardiner, Brian D. Lake, JD Sharp, Wayne A. Mitchell, Ruth E Williams, S. L. Bate
المصدر: Molecular genetics and metabolism. 66(4)
سنة النشر: 1999
مصطلحات موضوعية: Genetics, Male, Genotype, Endocrinology, Diabetes and Metabolism, Curvilinear bodies, DNA Mutational Analysis, Locus (genetics), Biology, Disease gene identification, Biochemistry, Phenotype, Pedigree, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Humans, Female, Late infantile neuronal ceroid lipofuscinosis, Molecular Biology, Gene, Microsatellite Repeats
الوصف: To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21–23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7.
تدمد: 1096-7192
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ccc373dadeee37060b4697500b03603
https://pubmed.ncbi.nlm.nih.gov/10191125
حقوق: CLOSED
رقم الأكسشن: edsair.doi.dedup.....9ccc373dadeee37060b4697500b03603
قاعدة البيانات: OpenAIRE