Authors:
MARTIN P
HEISKARI N
ZHOU J
LEINONEN A
TUMELIUS T
HERTZ JM
BARKER D
GREGORY M
ATKIN C
STYRKARSDOTTIR U
NEUMANN H
SPRINGATE J
SHOWS T
PETTERSSON E
TRYGGVASON K
Citation: P. Martin et al., HIGH MUTATION DETECTION RATE IN THE COL4A5 COLLAGEN GENE IN SUSPECTEDALPORT-SYNDROME USING PCR AND DIRECT DNA-SEQUENCING, Journal of the American Society of Nephrology, 9(12), 1998, pp. 2291-2301
Authors:
HEISKARI N
ZHANG X
ZHOU J
LEINONEN A
BARKER D
GREGORY M
ATKIN CL
NETZER KO
WEBER M
REEDERS S
GRONHAGENRISKA C
NEUMANN HPH
TREMBATH R
TRYGGVASON K
Citation: N. Heiskari et al., IDENTIFICATION OF 17 MUTATIONS IN 10 EXONS IN THE COL4A5 COLLAGEN GENE, BUT NO MUTATIONS FOUND IN 4 EXONS IN COL4A6 - A STUDY OF 250 PATIENTS WITH HEMATURIA AND SUSPECTED OF HAVING ALPORT SYNDROME, Journal of the American Society of Nephrology, 7(5), 1996, pp. 702-709
Authors:
RENIERI A
BRUTTINI M
GALLI L
ZANELLI P
NERI T
ROSSETTI S
TURCO A
HEISKARI N
ZHOU J
GUSMANO R
MASSELLA L
BANFI G
SCOLARI F
SESSA A
RIZZONI G
TRYGGVASON K
PIGNATTI PF
SAVI M
BALLABIO A
DEMARCHI M
Citation: A. Renieri et al., X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE, American journal of human genetics, 58(6), 1996, pp. 1192-1204
Authors:
HERTZ JM
HEISKARI N
ZHOU J
JENSEN UB
TRYGGVASON K
Citation: Jm. Hertz et al., A NONSENSE MUTATION IN THE COL4A5 COLLAGEN GENE IN A FAMILY WITH X-LINKED JUVENILE ALPORT SYNDROME, Kidney international, 47(1), 1995, pp. 327-332