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Volumn 543, Issue 1, 1988, Pages 1-16

Osteogenesis Imperfecta Nosology and Genetics

Author keywords

[No Author keywords available]

Indexed keywords

CLASSIFICATION; FEMALE; GENETICS; HUMAN; LETHAL GENE; MALE; OSTEOGENESIS IMPERFECTA; PEDIGREE; RADIOGRAPHY; REVIEW;

EID: 0024195591     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1988.tb55311.x     Document Type: Article
Times cited : (91)

References (41)
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    • Descriptionem et casus aliquot osteomalacia sistens. Dissertatio medica. Upsala. (Quoted from U. Seedorf, ibid.).
    • (1788)
    • Ekmann, O.J.1
  • 10
    • 0023917651 scopus 로고
    • Report of the International Working Group on the Nomenclature of Heritable Disorders of Connective Tissue
    • (1988) Am. J. Med. Genet. , vol.29 , pp. 581-594
    • Beighton, P.1
  • 11
    • 0021967252 scopus 로고
    • Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II
    • (1985) Nature , vol.316 , pp. 363-366
    • Bonadio, J.1    Byers, P.H.2
  • 13
    • 0022453920 scopus 로고
    • Use of molecular haplotypes specific for the pro a 2(1) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta
    • (1986) Am. J. Hum. Genet. , vol.38 , pp. 269-279
    • Falk, C.T.1
  • 29
    • 0021181518 scopus 로고
    • Cysteine in the triple‐helical domain of one allelic product of the α 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta
    • (1984) J. Biol. Chem. , vol.259 , pp. 11129-11138
    • Steinmann1
  • 35
    • 0019434782 scopus 로고
    • Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures
    • (1981) J. Med. Genet. , vol.18 , pp. 124-128
    • Beighton, P.1
  • 39
    • 0019424464 scopus 로고
    • Ein Syndrom bestehend aus Osteogenesis Imperfecta, Makrozephalus mit kongenitaler Amaurose und Oligophrenie bei drei Geschwistern
    • (1981) Klin. Paediatr. , vol.193 , pp. 334-340
    • Heide, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.