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Journal of Bone and Mineral Research

Volumn 16, Issue 9, 2001, Pages 1724-1727

Historical Vignette: Hypophosphatasia: Molecular diagnosis of Rathbun's original case

(4) Mumm, Steven a,b Jones, Jonathan a Finnegan, Patrick a Whyte, Michael P a,b

a BARNES JEWISH HOSPITAL (United States)

b Shriners Hospital for Children (United States)

Author keywords

Alkaline phosphatase; Inborn error of metabolism; Mutation; Osteoblast; Rickets

Indexed keywords

DNA;

ARTICLE; CASE REPORT; DNA DETERMINATION; GENE MUTATION; HUMAN; HUMAN CELL; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; INFANT; MALE; METABOLIC BONE DISEASE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; RICKETS;

ALKALINE PHOSPHATASE; ALLELES; FEMALE; GENOMIC IMPRINTING; HETEROZYGOTE; HISTORY, 20TH CENTURY; HUMANS; HYPOPHOSPHATASIA; MALE; MUTATION, MISSENSE; POINT MUTATION; PORTRAITS;

EID: 0034867464 PISSN: 08840431 EISSN: None Source Type: Journal
DOI: 10.1359/jbmr.2001.16.9.1724 Document Type: Article

Times cited : (27)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.