SCOPUS 정보 검색 플랫폼

Human Mutation

Volumn 9, Issue 3, 1997, Pages 195-208

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene

(1) Myerowitz, Rachel a

a ST MARY'S COLLEGE OF MARYLAND (United States)

Author keywords

Hex A; inherited; lysosomal disorder; mutations; polymorphism; Tay Sachs

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

AUTOSOMAL RECESSIVE DISORDER; DNA POLYMORPHISM; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; REVIEW; TAY SACHS DISEASE;

AGE OF ONSET; ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; DISEASE MODELS, ANIMAL; ENZYME TESTS; EXONS; GENE FREQUENCY; HETEROZYGOTE; HUMANS; INTRONS; MICE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; TAY-SACHS DISEASE;

EID: 0030933363 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7 Document Type: Review

Times cited : (85)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.