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

Brook-Carter, P T; Peral, B; Ward, C J; Thompson, P; Hughes, J; Maheshwar, M M; Nellist, M; Gamble, V; Harris, P C; Sampson, J R

Brook-Carter, P T; Peral, B; Ward, C J; Thompson, P; Hughes, J; Maheshwar, M M; Nellist, M; Gamble, V; Harris, P C; Sampson, J R.

Affiliation

Brook-Carter PT; Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

Nat Genet ; 8(4): 328-32, 1994 Dec.

Article in En | MEDLINE | ID: mdl-7894481

Subject(s)

Gene Deletion; Polycystic Kidney, Autosomal Dominant/genetics; Proteins/genetics; Repressor Proteins/genetics; Adolescent; Adult; Aged; Base Sequence; Child; Child, Preschool; Chromosomes, Human, Pair 16; DNA Primers; Electrophoresis, Gel, Pulsed-Field; Humans; Infant; Middle Aged; Molecular Sequence Data; TRPP Cation Channels; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins

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Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Proteins / Polycystic Kidney, Autosomal Dominant / Gene Deletion Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1994 Type: Article Affiliation country: United kingdom

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