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Volumn 85, Issue 10, 2000, Pages 3687-3689

A novel mutation causing complete thyroxine-binding globulin deficiency (TBG-CD-Negev) among the Bedouins in southern Israel

Author keywords

[No Author keywords available]

Indexed keywords

THYROXINE BINDING PROTEIN;

EID: 0033756442     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.85.10.6899     Document Type: Article
Times cited : (14)

References (22)
  • 1
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    • Refetoff, S.1
  • 3
    • 0024423930 scopus 로고
    • Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins
    • (1989) Biochemistry , vol.28 , pp. 8951-8966
    • Huber, R.1    Carrell, R.W.2
  • 8
    • 4243919846 scopus 로고
    • The thyroid
    • Kaplan SA, ed. Clinical paediatric endocrinology, 2nd Ed. Philadelphia: Saunders
    • (1990) , pp. 118
    • Fisher, D.A.1
  • 17
    • 0028157052 scopus 로고
    • A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: A possible mechanism of complete thyroxine-binding globulin deficiency in Japanese
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 283-287
    • Miura, Y.1    Kambe, F.2    Yamamori3
  • 18
    • 0024602056 scopus 로고
    • Sequence of the variant thyroxine-binding globulin of Australian Aborigines: Only one of two amino acid replacements is responsible for its altered properties
    • (1989) J Clin Invest , vol.83 , pp. 1344-1348
    • Takeda, K.1    Mori, Y.2    Sobieszczyk, S.3
  • 21
    • 0032231752 scopus 로고    scopus 로고
    • Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43
    • (1998) Am J Hum Genet , vol.63 , pp. 163-169
    • Parvari, R.1    Hershkovitz, E.2    Kanis, A.3
  • 22
    • 0033516715 scopus 로고    scopus 로고
    • Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes ate allelic: Evidence for an ancestral founder mutation and locus refinement
    • (1999) Am J Med Genet , vol.85 , pp. 48-52
    • Diaz, G.A.1    Gelb, B.D.2    Ali, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.