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

Human Molecular Genetics

Volumn 5, Issue 4, 1996, Pages 539-542

  Peral, Belén ^a   Ong, Albert C M ^a   San Millán, José L ^a,c   Gamble, Vicki ^a   Rees, Lesley ^b   Harris, Peter C ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DIZYGOTIC TWINS; FATHER; HUMAN; HUMAN CELL; KIDNEY POLYCYSTIC DISEASE; KIDNEY SIZE; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE; CHILD; DISEASES IN TWINS; DNA; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; TWINS, DIZYGOTIC;

EID: 0029929998     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.4.539     Document Type: Article

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