Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
Publication
, Journal Article
Porteous, ME; Curtis, A; Williams, O; Marchuk, D; Bhattacharya, SS; Burn, J
Published in: J Med Genet
December 1994
A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
J Med Genet
DOI
ISSN
0022-2593
Publication Date
December 1994
Volume
31
Issue
12
Start / End Page
925 / 926
Location
England
Related Subject Headings
- Telangiectasia, Hereditary Hemorrhagic
- Pedigree
- Male
- Humans
- Genetics & Heredity
- Genetic Linkage
- Genetic Heterogeneity
- Female
- Chromosomes, Human, Pair 9
- Chromosome Mapping
Citation
APA
Chicago
ICMJE
MLA
NLM
Porteous, M. E., Curtis, A., Williams, O., Marchuk, D., Bhattacharya, S. S., & Burn, J. (1994). Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet, 31(12), 925–926. https://doi.org/10.1136/jmg.31.12.925
Porteous, M. E., A. Curtis, O. Williams, D. Marchuk, S. S. Bhattacharya, and J. Burn. “Genetic heterogeneity in hereditary haemorrhagic telangiectasia.” J Med Genet 31, no. 12 (December 1994): 925–26. https://doi.org/10.1136/jmg.31.12.925.
Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet. 1994 Dec;31(12):925–6.
Porteous, M. E., et al. “Genetic heterogeneity in hereditary haemorrhagic telangiectasia.” J Med Genet, vol. 31, no. 12, Dec. 1994, pp. 925–26. Pubmed, doi:10.1136/jmg.31.12.925.
Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Genetic heterogeneity in hereditary haemorrhagic telangiectasia. J Med Genet. 1994 Dec;31(12):925–926.
Published In
J Med Genet
DOI
ISSN
0022-2593
Publication Date
December 1994
Volume
31
Issue
12
Start / End Page
925 / 926
Location
England
Related Subject Headings
- Telangiectasia, Hereditary Hemorrhagic
- Pedigree
- Male
- Humans
- Genetics & Heredity
- Genetic Linkage
- Genetic Heterogeneity
- Female
- Chromosomes, Human, Pair 9
- Chromosome Mapping