Haplotype analysis in autosomal dominant polycystic kidney disease

S. E. Pound; S. Thomas; A. Snarey; A. M. Macnicol; M. L. Watson; P. M. Pignatelli; A. M. Frischauf; P. C. Harris; A. F. Wright

doi:10.1136/jmg.32.3.208

Haplotype analysis in autosomal dominant polycystic kidney disease

S. E. Pound, S. Thomas, A. Snarey, A. M. Macnicol, M. L. Watson, P. M. Pignatelli, A. M. Frischauf, P. C. Harris, A. F. Wright

Nephrology and Hypertension

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

Abstract

Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. in addition, three unlinked (PKD2) families and two families with potential new mutation were identified.

Original language	English (US)
Pages (from-to)	208-212
Number of pages	5
Journal	Journal of medical genetics
Volume	32
Issue number	3
DOIs	https://doi.org/10.1136/jmg.32.3.208
State	Published - Mar 1995

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Haplotype analysis in autosomal dominant polycystic kidney disease",

abstract = "Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. in addition, three unlinked (PKD2) families and two families with potential new mutation were identified.",

author = "Pound, {S. E.} and S. Thomas and A. Snarey and Macnicol, {A. M.} and Watson, {M. L.} and Pignatelli, {P. M.} and Frischauf, {A. M.} and Harris, {P. C.} and Wright, {A. F.}",

year = "1995",

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doi = "10.1136/jmg.32.3.208",

language = "English (US)",

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T1 - Haplotype analysis in autosomal dominant polycystic kidney disease

AU - Pound, S. E.

AU - Thomas, S.

AU - Snarey, A.

AU - Macnicol, A. M.

AU - Watson, M. L.

AU - Pignatelli, P. M.

AU - Frischauf, A. M.

AU - Harris, P. C.

AU - Wright, A. F.

PY - 1995/3

Y1 - 1995/3

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AB - Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. in addition, three unlinked (PKD2) families and two families with potential new mutation were identified.

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JO - Journal of medical genetics

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ER -

Haplotype analysis in autosomal dominant polycystic kidney disease

Abstract

ASJC Scopus subject areas

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