Autor:	Bibi, Zubaida, Muhammad, Almas Hashmi, Huma, Arshad Cheema, Muhammad, Naeem
Rok vydání:	2018
Předmět:	Family Health Male Gangliosidosis GM1 Base Sequence Infant Exons beta-Galactosidase Pedigree Consanguinity Mutation Humans Female Genetic Predisposition to Disease Pakistan Sequence Deletion
Zdroj:	Journal of genetics. 97(5)
ISSN:	0973-7731
Popis:	Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (β-Gal) encoded by galactose beta 1 (
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::57b39e2ef30ee6869b7f3e34350ab2b5 https://pubmed.ncbi.nlm.nih.gov/30555092 Zobrazit plný text záznamu Full text from SpringerLink