Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).

Human mutation

Volumn 15, Issue 6, 2000, Pages 582-

  Perrichot, R ^a   Mercier, B ^a   Carre, A ^a   Cledes, J ^a   Ferec, C ^a  

^a BREST UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN; TYROSINE;

ARTICLE; CHROMOSOME 16; GENE EXPRESSION REGULATION; GENETICS; HUMAN; KIDNEY POLYCYSTIC DISEASE; MUTATION;

CHROMOSOMES, HUMAN, PAIR 16; GERM-LINE MUTATION; GLUTAMINE; HUMANS; MUTAGENESIS, INSERTIONAL; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; TRPP CATION CHANNELS; TYROSINE;

MLCS; MLOWN;

EID: 0034198912     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200006)15:6<582::aid-humu20>3.0.co;2-b     Document Type: Article

References (0)