about
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotypeStructure and distribution of an Alu-type deletion mutation in Sandhoff diseaseLong-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonatesIncidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations.Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in LebanonEvidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.Apparent hexosaminidase B deficiency in two healthy members of a pedigree.Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
P2860
Q24538685-B3FA98A3-E382-4039-90A9-7BFFDB79C32EQ24618126-976AA46C-4ED4-4375-9B7B-0483B4FC4BBCQ27318381-0CBB5D3A-A1A8-43A2-9EC9-79EDE6F93CE2Q35137971-279EDB35-9460-497C-8F3D-E8B8E979EDC2Q35199124-DE6A3DBB-DBF6-4A94-A66C-ECF09B76BDBBQ35200531-02B90664-FAA8-407C-9A57-C945A5834739Q35201058-0F7A3BC1-1BD4-48AD-BFE3-45F686ABCFFFQ35203195-F18BA5CC-63EB-46BC-8B3D-F7C535420BCFQ35203408-B9E5C3E9-D9E7-4301-974F-332D76C2AF97Q35204040-20286910-99AF-480F-9A6F-B119B1C0E3A1
P2860
description
1978 nî lūn-bûn
@nan
1978 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1978 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
name
Carrier detection in Sandhoff disease
@ast
Carrier detection in Sandhoff disease
@en
Carrier detection in Sandhoff disease
@nl
type
label
Carrier detection in Sandhoff disease
@ast
Carrier detection in Sandhoff disease
@en
Carrier detection in Sandhoff disease
@nl
prefLabel
Carrier detection in Sandhoff disease
@ast
Carrier detection in Sandhoff disease
@en
Carrier detection in Sandhoff disease
@nl
P2093
P2860
P1476
Carrier detection in Sandhoff disease
@en
P2093
A L Burton
J A Lowden
M A Skomorowski
P2860
P407
P577
1978-01-01T00:00:00Z