Sporadic case of X-chromosomal Alport syndrome in a consanguineous family

[1]  T. Shows,et al.  High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. , 1998, Journal of the American Society of Nephrology : JASN.

[2]  C. Antignac,et al.  Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. , 1996, American journal of human genetics.

[3]  O. Gross,et al.  Use of psoralen-coupled nucleotide primers for screening of COL4A5 mutations in Alport syndrome. , 1996, Kidney international.

[4]  A. Ballabio,et al.  X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. , 1996, American journal of human genetics.

[5]  K. Harano,et al.  The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network. , 1996, Kidney international.

[6]  F. Endo,et al.  Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells. , 1994, Kidney international.

[7]  K. Tryggvason,et al.  COL4A5 deletions in three patients with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. , 1994, Journal of the American Society of Nephrology : JASN.

[8]  K. Tryggvason,et al.  Structure of the human type IV collagen COL4A5 gene. , 1994, The Journal of biological chemistry.

[9]  H. Smeets,et al.  Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. , 1994, Nature genetics.

[10]  H. Smeets,et al.  Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. , 1993, Science.

[11]  K. Tryggvason,et al.  Molecular genetics of Alport syndrome. , 1993, Kidney international.

[12]  T. Yang-Feng,et al.  Colocalization of the genes for the α3(IV) and α4(IV) chains of type IV collagen to chromosome 2 bands q35–q37 , 1992 .

[13]  M. Skolnick,et al.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome. , 1990, Science.

[14]  B. Hudson,et al.  Glomerular basement membrane. Identification of a fourth chain, alpha 4, of type IV collagen. , 1990, The Journal of biological chemistry.

[15]  R. Eddy,et al.  Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[16]  M. Bobrow,et al.  Localization of the gene for classic Alport syndrome. , 1989, Genomics.

[17]  R. Timpl Structure and biological activity of basement membrane proteins. , 1989, European journal of biochemistry.

[18]  D. Prockop,et al.  The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. , 1988, The Journal of biological chemistry.

[19]  M. Bobrow,et al.  GENETICS OF CLASSIC ALPORT'S SYNDROME , 1988, The Lancet.

[20]  R. Deutzmann,et al.  The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen. , 1988, European journal of biochemistry.

[21]  H. Brunner,et al.  Localization of the gene for X-linked Alport's syndrome. , 1988, Kidney international.

[22]  B. Hudson,et al.  Identification of the Goodpasture antigen as the alpha 3(IV) chain of collagen IV. , 1988, The Journal of biological chemistry.

[23]  M. Skolnick,et al.  Mapping of Alport syndrome to the long arm of the X chromosome. , 1988, American journal of human genetics.

[24]  J. Mackenzie,et al.  The genes coding for human pro alpha 1(IV) collagen and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13. , 1988, American journal of human genetics.

[25]  A. Chompret,et al.  Genetic heterogeneity of Alport syndrome. , 1985, Kidney international.

[26]  L. Kunkel,et al.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[27]  Alport Ac HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS , 1927 .