Nail-patella syndrome: Identification of mutations in the LMX1B gene in dutch families

Journal of the American Society of Nephrology

Volumn 11, Issue 9, 2000, Pages 1762-1766

  Knoers, Nine V A M ^a   Bongers, Ernie M H F ^a   Van Beersum, Sylvia E G ^a   Lommen, Ed J P ^b   Van Bokhoven, Hans ^a   Hol, Frans A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ST JOSEPH HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; ZINC;

CONFERENCE PAPER; DISEASE SEVERITY; DNA BINDING; FAMILIAL DISEASE; GENE LOSS; GENE MUTATION; GENOTYPE; HUMAN; KIDNEY DISEASE; NAIL PATELLA SYNDROME; NETHERLANDS; PRIORITY JOURNAL;

EID: 0033848086     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (11)

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10. Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B: Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail-patella syndrome. Nat Genet 19: 47-50, 1998
11. Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE: Loss-of-function mutations in the LIM-homeodomain gene LMX1B, in nail-patella syndrome. Hum Mol Genet 7: 1091-1098, 1998