Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
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Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. / Heidet, L; Cohen-Solal, L; Boye, E; Thorner, P; Kemper, Markus J.; David, A; Larget Piet, L; Zhou, J; Flinter, F; Zhang, X; Gubler, M C; Antignac, C.
In: Cytogenet Cell Genet, Vol. 78, No. 3-4, 3-4, 1997, p. 240-246.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
AU - Heidet, L
AU - Cohen-Solal, L
AU - Boye, E
AU - Thorner, P
AU - Kemper, Markus J.
AU - David, A
AU - Larget Piet, L
AU - Zhou, J
AU - Flinter, F
AU - Zhang, X
AU - Gubler, M C
AU - Antignac, C
PY - 1997
Y1 - 1997
N2 - Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.
AB - Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. We describe four YAC clones covering the locus and a refined restriction map of the entire COL4A6 gene. These resources have allowed us to make a precise estimate of the size of COL4A6 introns 2 and 3, as well as the size of the gene itself. We also describe five novel deletions which, in conjunction with previous reports, allow the definition of a 90-kb critical region in which to search for a gene or other entity involved in the pathogenesis of DL.
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Cloning, Molecular
KW - DNA Primers
KW - Gene Deletion
KW - Restriction Mapping
KW - Exons
KW - Chromosomes, Artificial, Yeast
KW - Collagen/genetics
KW - Leiomyomatosis/genetics
KW - Nephritis, Hereditary/genetics
KW - Adult
KW - Humans
KW - Male
KW - Female
KW - Cloning, Molecular
KW - DNA Primers
KW - Gene Deletion
KW - Restriction Mapping
KW - Exons
KW - Chromosomes, Artificial, Yeast
KW - Collagen/genetics
KW - Leiomyomatosis/genetics
KW - Nephritis, Hereditary/genetics
M3 - SCORING: Journal article
VL - 78
SP - 240
EP - 246
JO - Cytogenet Cell Genet
JF - Cytogenet Cell Genet
SN - 0301-0171
IS - 3-4
M1 - 3-4
ER -