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Article

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

1 Dec 1994

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7894481
DOI: 10.1038/ng1294-328

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Related research

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndromePMID 7894481Read ↗

The TSC2/PKD1 contiguous gene syndrome.Semantic proximity Read ↗

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.Semantic proximity Read ↗

Polycystic kidney disease: The complete structure of the PKD1 gene and its proteinSemantic proximity Read ↗

[Polycystic kidney: complete structure of the PKD1 gene and its protein].Semantic proximity Read ↗

The clinical complexity of PKHD1 gene: from neonatal lethality to casual diagnosis in late pediatric stages.Semantic proximity Read ↗

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigreesSemantic proximity Read ↗

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney diseaseSemantic proximity Read ↗

Identification of a novel PKD1 mutation in an Irish autosomal dominant polycystic kidney disease kindred.Semantic proximity Read ↗

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].Semantic proximity Read ↗

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.Semantic proximity Read ↗

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

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