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Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1
NPHP1 is the most prevalent genetic factor in the development of juvenile nephronophthisis (NPHP). In our previous study, NPHP1 homozygous point mutations were detected by Sanger sequencing in three cases from two nonconsanguineous pedigrees. However, mutant sites were detected in only one parent fr...
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| Vydáno v: | Int J Mol Epidemiol Genet |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
e-Century Publishing Corporation
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6737400/ https://ncbi.nlm.nih.gov/pubmed/31523374 |
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