Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Torra, Roser ^a   Badenas, Celia ^a   Peral, Belen ^b   Darnell, Alejandro ^a   Serra, Eduard ^a   Gamble, Vicki ^b   Turco, Alberto E ^c   Harris, Peter C ^b   Estivill, Xavier ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

ADPKD; Mutation; PKDI; Recurrence

Indexed keywords

DNA; ENDODEOXYRIBONUCLEASE MAEI; GLUTAMINE; POLYCYSTIC KIDNEY DISEASE 1 PROTEIN; POLYCYSTIN; PROTEIN; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHEMISTRY; FAMILY HEALTH; GENETICS; HUMAN; ITALY; KIDNEY POLYCYSTIC DISEASE; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; SPAIN; STOP CODON; UNITED KINGDOM; AUTOSOMAL DOMINANT DISORDER; GENETIC SCREENING; HAPLOTYPE; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CODON, TERMINATOR; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; DNA MUTATIONAL ANALYSIS; ENGLAND; FAMILY HEALTH; GLUTAMINE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; POINT MUTATION; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; SPAIN; TRPP CATION CHANNELS;

EID: 0031964981     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110139     Document Type: Article

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