Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

Bart Janssen; Julian Sampson; Mieke van der Est; Wout Deelen; Senno Verhoef; Ian Daniels; Arjenne Hesseling; Phillip Brook-Carter; Mark Nellist; Dick Lindhout; Lodewijk Sandkuijl; Dicky Halley

doi:10.1007/BF00201608

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

Bart Janssen^*, Julian Sampson, Mieke van der Est, Wout Deelen, Senno Verhoef, Ian Daniels, Arjenne Hesseling, Phillip Brook-Carter, Mark Nellist, Dick Lindhout, Lodewijk Sandkuijl, Dicky Halley

^*Corresponding author for this work

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

Abstract

Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 c M between ABL and ABO.

Original language	English
Pages (from-to)	437-440
Number of pages	4
Journal	Human Genetics
Volume	94
Issue number	4
DOIs	https://doi.org/10.1007/BF00201608
Publication status	Published - Oct 1994
Externally published	Yes

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title = "Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families",

abstract = "Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 c M between ABL and ABO.",

author = "Bart Janssen and Julian Sampson and {van der Est}, Mieke and Wout Deelen and Senno Verhoef and Ian Daniels and Arjenne Hesseling and Phillip Brook-Carter and Mark Nellist and Dick Lindhout and Lodewijk Sandkuijl and Dicky Halley",

year = "1994",

month = oct,

doi = "10.1007/BF00201608",

language = "English",

volume = "94",

pages = "437--440",

journal = "Human Genetics",

issn = "0340-6717",

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T1 - Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

AU - Janssen, Bart

AU - Sampson, Julian

AU - van der Est, Mieke

AU - Deelen, Wout

AU - Verhoef, Senno

AU - Daniels, Ian

AU - Hesseling, Arjenne

AU - Brook-Carter, Phillip

AU - Nellist, Mark

AU - Lindhout, Dick

AU - Sandkuijl, Lodewijk

AU - Halley, Dicky

PY - 1994/10

Y1 - 1994/10

N2 - Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 c M between ABL and ABO.

AB - Tuberous sclerosis (TSC) is a heterogeneous trait. Since 1990, linkage studies have yielded putative TSC loci on chromosomes 9, 11, 12 and 16. Our current analysis, performed on 14 Dutch and British families, reveals only evidence for loci on chromosome 9q34 (TSC1) and chromosome 16p13 (TSC2). We have found no indication for a third locus for TSC, linked or unlinked to either of these chromosomal regions. The majority of our families shows linkage to chromosome 9. We have refined the candidate region for TSC1 to a region of approximately 5 c M between ABL and ABO.

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U2 - 10.1007/BF00201608

DO - 10.1007/BF00201608

M3 - Article

C2 - 7927344

AN - SCOPUS:0027933031

SN - 0340-6717

VL - 94

SP - 437

EP - 440

JO - Human Genetics

JF - Human Genetics

IS - 4

ER -

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

Abstract

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