Suppr超能文献

Localisation of a Fanconi anaemia gene to chromosome 9p.

作者信息

Saar K, Schindler D, Wegner R D, Reis A, Wienker T F, Hoehn H, Joenje H, Sperling K, Digweed M

机构信息

Institute of Human Genetics, Charitĕ-Campus Virchow-Klinikum, Humboldt University, Berlin, Germany.

出版信息

Eur J Hum Genet. 1998 Sep-Oct;6(5):501-8. doi: 10.1038/sj.ejhg.5200241.

Abstract

Using homozygosity mapping in a large consanguineous family, we have localised to chromosome 9p a further gene for the autosomal recessive, genetically heterogeneous disease Fanconi anaemia (FA). This is the fourth of at least eight FA genes to be localised to a discrete chromosomal region. Previously localised genes are FAA, FAC and FAD. By analysis of assigned families we show that the gene localised to chromosome 9p is FAF, FAG or FAH, or a new FA gene, and refine the localisation to the 21 cM region between markers D9S1678 and D9S175.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验