Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

J A Jefferson; H H Lemmink; A E Hughes; C M Hill; H J Smeets; C C Doherty; A P Maxwell

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

J A Jefferson, H H Lemmink, A E Hughes, C M Hill, H J Smeets, C C Doherty, A P Maxwell

Research output: Contribution to journal › Article › peer-review

Abstract

Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is often associated with sensorineural deafness and/or ocular abnormalities. The majority of families are X-linked due to mutations in the COL4A5 gene at Xq22. Autosomal forms of the disease are also recognized with recessive disease, having been shown to be due to mutations in the COL4A3 and COL4A4 genes on chromosome 2. Familial benign haematuria has also been mapped to this region in some families.

Original language	English
Pages (from-to)	1595-9
Number of pages	5
Journal	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Volume	12
Issue number	8
Publication status	Published - 1997

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Jefferson, J. A., Lemmink, H. H., Hughes, A. E., Hill, C. M., Smeets, H. J., Doherty, C. C., & Maxwell, A. P. (1997). Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 12(8), 1595-9.

Jefferson, J A ; Lemmink, H H ; Hughes, A E ; Hill, C M ; Smeets, H J ; Doherty, C C ; Maxwell, A P. / Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 1997 ; Vol. 12, No. 8. pp. 1595-9.

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title = "Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)",

abstract = "Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is often associated with sensorineural deafness and/or ocular abnormalities. The majority of families are X-linked due to mutations in the COL4A5 gene at Xq22. Autosomal forms of the disease are also recognized with recessive disease, having been shown to be due to mutations in the COL4A3 and COL4A4 genes on chromosome 2. Familial benign haematuria has also been mapped to this region in some families.",

author = "Jefferson, {J A} and Lemmink, {H H} and Hughes, {A E} and Hill, {C M} and Smeets, {H J} and Doherty, {C C} and Maxwell, {A P}",

year = "1997",

language = "English",

volume = "12",

pages = "1595--9",

journal = "Nephrology Dialysis Transplantation",

issn = "0931-0509",

publisher = "Oxford University Press",

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Jefferson, JA, Lemmink, HH, Hughes, AE, Hill, CM, Smeets, HJ, Doherty, CC & Maxwell, AP 1997, 'Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)', Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, vol. 12, no. 8, pp. 1595-9.

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). / Jefferson, J A; Lemmink, H H; Hughes, A E; Hill, C M; Smeets, H J; Doherty, C C; Maxwell, A P.

In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 12, No. 8, 1997, p. 1595-9.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

AU - Jefferson, J A

AU - Lemmink, H H

AU - Hughes, A E

AU - Hill, C M

AU - Smeets, H J

AU - Doherty, C C

AU - Maxwell, A P

PY - 1997

Y1 - 1997

N2 - Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is often associated with sensorineural deafness and/or ocular abnormalities. The majority of families are X-linked due to mutations in the COL4A5 gene at Xq22. Autosomal forms of the disease are also recognized with recessive disease, having been shown to be due to mutations in the COL4A3 and COL4A4 genes on chromosome 2. Familial benign haematuria has also been mapped to this region in some families.

AB - Alport syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in young adult life and is often associated with sensorineural deafness and/or ocular abnormalities. The majority of families are X-linked due to mutations in the COL4A5 gene at Xq22. Autosomal forms of the disease are also recognized with recessive disease, having been shown to be due to mutations in the COL4A3 and COL4A4 genes on chromosome 2. Familial benign haematuria has also been mapped to this region in some families.

M3 - Article

C2 - 9269635

VL - 12

SP - 1595

EP - 1599

JO - Nephrology Dialysis Transplantation

JF - Nephrology Dialysis Transplantation

SN - 0931-0509

IS - 8

ER -

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4)

Abstract

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