(Q48056738)

8 February 2018

title

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. (English)

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8 February 2018

autosomal dominant polycystic kidney disease

main subject

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autosomal dominant polycystic kidney

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Qian F

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8 February 2018

Watnick TJ

series ordinal

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8 February 2018

Onuchic LF

series ordinal

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8 February 2018

Germino GG

series ordinal

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8 February 2018

language of work or name

English

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publication date

1 December 1996

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8 February 2018

published in

Cell

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8 February 2018

volume

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8 February 2018

issue

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8 February 2018

page(s)

979-987

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8 February 2018

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium)

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Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

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Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

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Is there evidence for anticipation in autosomal-dominant polycystic kidney disease?

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Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

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Autosomal dominant polycystic kidney disease

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Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction

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Toad urinary bladder epithelial cells in culture: maintenance of epithelial structure, sodium transport, and response to hormones

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The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

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Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity

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Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

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Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23

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PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

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Counselling under genetic heterogeneity: a practical approach.

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Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion

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A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

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Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

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Pausing in simian virus 40 DNA replication by a sequence containing (dG-dA)27.(dT-dC)27

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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

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7 January 2021

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

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7 January 2021

Characterization of the Han:SPRD rat model for hereditary polycystic kidney disease

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7 January 2021

Characterization and expression of a cDNA encoding the human androgen receptor

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7 January 2021

Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair

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Langerhans'-cell histiocytosis (histiocytosis X)--a clonal proliferative disease.

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7 January 2021

10.1016/S0092-8674(00)81793-6

Identifiers

DOI

1 reference

8 February 2018

1 reference

8 February 2018