Výsledky vyhledávání - "Laura A. Kiger"

Akademický článek

Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

Autor: Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

Abstract Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activ

Externí odkaz: https://doaj.org/article/f54cb151ac62460c8e3c972f6df6730b

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Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort

Autor: Kristjan Eerik Kaseniit, Patricia Z. Page, Laura A. Kiger, Alana C. Cecchi, Dale Muzzey, Krista Moyer, Elizabeth S. Vengoechea, Imran S. Haque, Nikita Mehta, Karen A. Grinzaid, Melanie W Hardy

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine

Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activity in pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43e62c3e549f39098d54c711a2f1961
https://doi.org/10.1002/mgg3.836

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