An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1473-1481

  Watnick, Terry J ^a   Piontek, Klaus B ^a   Cordai, Teresa M ^b   Weber, Horst ^c   Gandolph, Michael A ^a   Qian, Feng ^a   Lens, Xose M ^b   Neumann, Hartmut P H ^c   Germino, Gregory G ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HETERODUPLEX; MEMBRANE PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; EXON; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN CELL; KIDNEY POLYCYSTIC DISEASE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TECHNIQUE;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA; DNA PRIMERS; EXONS; MOLECULAR SEQUENCE DATA; NUCLEIC ACID HETERODUPLEXES; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROTEINS; TRPP CATION CHANNELS;

EID: 0030871022     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1473     Document Type: Article

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