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Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3

✍ Scribed by Mohsen Ghadami; Yoshio Makita; Kunihiro Yoshida; Gen Nishimura; Yoshimitsu Fukushima; Keiko Wakui; Shiro Ikegawa; Koki Yamada; Shinji Kondo; Norio Niikawa; Hiro-aki Tomita


Book ID
117853129
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
104 KB
Volume
66
Category
Article
ISSN
0002-9297

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✍ Armand Bottani; Yagang Xie; Frank Binkert; Albert Schinzel πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 570 KB

A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associa