Autosomal recessive polycystic kidney disease
| العنوان: | Autosomal recessive polycystic kidney disease |
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| المؤلفون: | Sabine Rudnik-Schöneborn, Klaus Zerres, Jutta Becker, Carsten Steinkamm, Gabi Mücher |
| المصدر: | Journal of Molecular Medicine. 76:303-309 |
| بيانات النشر: | Springer Science and Business Media LLC, 1998. |
| سنة النشر: | 1998 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Pathology, Fibrocystin, Autosomal dominant polycystic kidney disease, Linkage Disequilibrium, Genetic Heterogeneity, Prenatal Diagnosis, Drug Discovery, medicine, Humans, Cyst, Genetics (clinical), Polycystic Kidney, Autosomal Recessive, biology, Genetic heterogeneity, business.industry, Chromosome Mapping, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Pedigree, biology.protein, Molecular Medicine, Chromosomes, Human, Pair 6, Differential diagnosis, business, Kidney disease |
| الوصف: | Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later ages and survival into adulthood have been observed in many cases. The responsible gene has been mapped to chromosome 6p. Thus there is no evidence of genetic heterogeneity. The most important indication for DNA diagnosis is the prenatal diagnosis in families with at least one affected child. The critical region has been narrowed with the use of recombinant families of about 4 cM. Several possible candidate genes have been excluded. |
| تدمد: | 1432-1440 0946-2716 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645288bb07a37977d5bc469f7ae07d9bTest https://doi.org/10.1007/s001090050221Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....645288bb07a37977d5bc469f7ae07d9b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14321440 09462716 |
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