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

Nature Genetics

Volumn 8, Issue 4, 1994, Pages 328-332

  Brook Carter, Phillip T ^a   Peral, Belén ^b   Ward, Christopher J ^b   Thompson, Peter ^a   Hughes, Jim ^b   Maheshwar, Magitha M ^a   Nellist, Mark ^a   Gamble, Vicki ^b   Harris, Peter C ^b   Sampson, Julian R ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 16P; CONTROLLED STUDY; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INFANT; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; DNA PRIMERS; ELECTROPHORESIS, GEL, PULSED-FIELD; GENE DELETION; HUMAN; INFANT; MIDDLE AGE; MOLECULAR SEQUENCE DATA; POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT; PROTEINS; REPRESSOR PROTEINS; SUPPORT, NON-U.S. GOV'T;

EID: 0028051871     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1294-328     Document Type: Article

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