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Volumn 159, Issue 3, 2000, Pages

Population-based genetic screening for reproductive counseling: The Tay-Sachs disease model

Author keywords

Carrier testing; Mutation; Reproductive counseling; Screening; Tay Sachs disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

EID: 0034434840     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: 10.1007/pl00014401     Document Type: Conference Paper
Times cited : (178)

References (18)
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    • Some epidemiologic and genetic aspects of Tay-Sachs disease
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    • (1962) , pp. 359-374
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  • 13
    • 0014678521 scopus 로고
    • Tay-Sachs disease: Generalised absence of a beta-D-N-acetylhexosaminidase component
    • (1969) Science , vol.165 , pp. 698-700
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  • 15
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    • Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: Substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 2413-2417
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  • 16
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    • Variation of beta-N-acetylhexosaminidase pattern in Tay-Sachs disease
    • (1969) FEBS Lett , vol.4 , pp. 351-359
    • Sandhoff, K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.