## Communicated by Jurgen Horst Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood. In a given family, however, patients usually di
✦ LIBER ✦
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
✍ Scribed by K Zerres; J Senderek; S Rudnik-Schöneborn; T Eggermann; J Kunze; T Mononen; H Kääriäinen; J Kirfel; M Moser; R Buettner; C Bergmann
- Book ID
- 110725669
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 703 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0009-9163
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X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations