| Title |
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34
|
|---|---|
| Published in |
Human Genetics, January 2007
|
| DOI | 10.1007/s00439-006-0311-1 |
| Pubmed ID | |
| Authors |
B. Isidor, N. Dagoneau, C. Huber, D. Genevieve, B. Bader-Meunier, S. Blanche, C. Picard, M. C. De Vernejoul, A. Munnich, M. Le Merrer, V. Cormier-Daire |
| Abstract |
Ghosal hemato-diaphyseal dysplasia is a rare autosomal recessive disorder characterized by a progressive sclerosing diaphyseal dysplasia and refractory anemia. The pathogenesis and genetic bases of this syndrome remain hitherto unknown. We have performed a genome wide search in two inbred families originating from Algeria and Tunisia. Here, we report on the mapping of a disease gene to chromosome 7q33-34 (Zmax = 4.21 at theta = 0 at locus D7S2513) in a 3.4 Mb defined by loci D7S2560 and AC091742. Ongoing studies will hopefully lead to identification of the disease-causing gene. |
Mendeley readers
The data shown below were compiled from readership statistics for 7 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 14% |
| Tunisia | 1 | 14% |
| Unknown | 5 | 71% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 2 | 29% |
| Researcher | 2 | 29% |
| Professor | 1 | 14% |
| Student > Ph. D. Student | 1 | 14% |
| Unknown | 1 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 3 | 43% |
| Biochemistry, Genetics and Molecular Biology | 2 | 29% |
| Social Sciences | 1 | 14% |
| Unknown | 1 | 14% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 May 2011.
All research outputs
#7,454,951
of 22,790,780 outputs
Outputs from Human Genetics
#933
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Outputs of similar age
#42,262
of 157,130 outputs
Outputs of similar age from Human Genetics
#6
of 21 outputs
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