A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
about
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimationIdentification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type IFour novel PEPD alleles causing prolidase deficiencyFurther investigation of the HEXA gene intron 9 donor splice site mutation frequently found in non-Jewish Tay-Sachs disease patients from the British Isles.Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screeningTay-Sachs disease: current perspectives from AustraliaNovel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene"Pseudodeficiencies" of lysosomal hydrolases.Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysisComprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.Is the presence of two different Tay-Sachs disease mutations in a Cajun population an unexpected observation?Distribution of a pseudodeficiency allele among Tay-Sachs carriers.Medical genetics: advances in brief: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
P2860
Q24670366-A4BD05FB-A8A1-48DF-9ABB-56F454D887B5Q24672565-BA851CB3-F39B-43D6-8D78-D6F3912F7D34Q24673090-4F22C921-6DB4-4F0A-B899-ABC4AC80FC98Q33595444-89C44967-3F4B-4856-BAC0-0C1E8D975BD6Q34402430-E7DDAF01-6FE6-4B5A-9A15-B1F8A538869CQ35024221-8FF3C58D-9B37-4756-A8D5-A4CD6E3095ADQ35238535-9BC64877-3906-47BE-929F-F91819E46DE8Q35643404-A6A606F1-6361-45CB-A266-5CFEFE8A7990Q35644473-3640F078-783B-487D-AF3B-AAF93316EBD0Q35889203-4FE2ADD6-10DF-429D-9284-A5237A85A6A5Q36590890-0A5C5B53-2D29-4F78-8C78-7DD46447ED4DQ40454479-A264B102-A066-40D0-986F-F0E04CA6E98AQ41990196-31680204-ABA7-4214-A644-62FBD0302706Q42033075-4BAD4B44-5255-438B-9C61-8F9462C3BFD1Q43117450-FE80DEAB-4B4F-4EDE-B4DD-13D188B14D2FQ43146916-D182F65D-FE93-4E22-A086-C74FBF8070A8Q55501544-3C1134EB-B381-4B0F-A669-60F984BD5123
P2860
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
description
1992 nî lūn-bûn
@nan
1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A pseudodeficiency allele comm ...... ications for carrier screening
@ast
A pseudodeficiency allele comm ...... ications for carrier screening
@en
A pseudodeficiency allele comm ...... ications for carrier screening
@nl
type
label
A pseudodeficiency allele comm ...... ications for carrier screening
@ast
A pseudodeficiency allele comm ...... ications for carrier screening
@en
A pseudodeficiency allele comm ...... ications for carrier screening
@nl
prefLabel
A pseudodeficiency allele comm ...... ications for carrier screening
@ast
A pseudodeficiency allele comm ...... ications for carrier screening
@en
A pseudodeficiency allele comm ...... ications for carrier screening
@nl
P2093
P2860
P1476
A pseudodeficiency allele comm ...... ications for carrier screening
@en
P2093
B L Triggs-Raine
B R Akerman
C E Dowling
E E Grebner
J S Lim-Steele
M M Kaback
M R Natowicz
P2860
P304
P407
P577
1992-10-01T00:00:00Z