๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A Japanese family pedigree of patients with severe combined immunodeficiency disease with X-linked inheritance

โœ Scribed by Masayoshi Minegishi; Shigeru Tsuchiya; Yoshiko Yamaguchi; Tetsuo Sato; Naoko Minegishi; Tasuke Konno


Publisher
Nature Publishing Group
Year
1991
Tongue
English
Weight
361 KB
Volume
36
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Family pictures: Growing up with a broth
โœ Fanos, Joanna H. ;Puck, Jennifer M. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 98 KB ๐Ÿ‘ 2 views

Severe combined immunodeficiency (SCID) is a rare syndrome of profoundly impaired immunity, most often X-linked (XSCID). In past generations male infants with XSCID succumbed to infections during the first year of life, but prompt diagnosis and bone marrow transplantation currently make survival pos

Three novel mutations in the interleukin
โœ Yoshiyuki Minegishi; Naoto Ishii; Hirotoshi Maeda; Shuji Takagi; Masahiro Tsuchi ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› Springer ๐ŸŒ English โš– 653 KB

Three novel mutations in the IL-2R gamma chain gene were identified in four Japanese patients with X-linked severe combined immunodeficiency by direct sequence analysis of polymerase chain reaction (PCR) amplified DNA fragments.

Linkage of PGK1 to X-linked severe combi
โœ Judith Goodship; Roland Levinsky; Sue Malcolm ๐Ÿ“‚ Article ๐Ÿ“… 1989 ๐Ÿ› Springer ๐ŸŒ English โš– 346 KB

We present a linkage map of DNA probes around the X-linked severe combined immunodeficiency (IMD4) locus at Xq11-13. DXS159 and PGK1 show no cross-overs with the disease locus (Lod 3.01 at theta = 0.00). The order of loci is DXS1-DXS106-(DXS159-PGK1-IMD4)-DXS72 -DXYS1. Members of families whose carr