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Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population

โœ Scribed by Lisa Edelmann; Jianli Dong; Robert J. Desnick; Ruth Kornreich


Book ID
117853852
Publisher
American Society of Human Genetics
Year
2002
Tongue
English
Weight
359 KB
Volume
70
Category
Article
ISSN
0002-9297

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Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population has been established by the testing of 66,749 AJ subjects in the Dor Yeshorim program, a uniqu