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Volumn 10, Issue 4, 1997, Pages 290-294

Evidence for founder effect of the Glu104asp substitution and identification of new mutations in triosephosphate isomerase deficiency

(4) Arya, Roopen a Lalloz, Michel R A a Bellingham, Alastair J a Layton, D Mark a

a KING'S COLLEGE LONDON (United Kingdom)

Author keywords

Founder effect; Mutation; Polymorphism; Triosephosphate isomerase

Indexed keywords

ASPARTIC ACID; CYSTEINE; DIHYDROXYACETONE PHOSPHATE; DNA; GLUTAMIC ACID; ISOLEUCINE; NUCLEOTIDE; TRIOSEPHOSPHATE ISOMERASE; TYROSINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CODON; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; ASPARTIC ACID; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EUROPE; FEMALE; FOUNDER EFFECT; GLUTAMIC ACID; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RESTRICTION MAPPING; TRIOSE-PHOSPHATE ISOMERASE;

EID: 0030967792 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/(SICI)1098-1004(1997)10:4<290::AID-HUMU4>3.0.CO;2-L Document Type: Article

Times cited : (42)

References (7)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.