A recurrent 1992delCT mutation of the type X collagen gene in a Japanese patient with Schmid metaphyseal chondrodysplasia

Japanese Journal of Human Genetics

Volumn 41, Issue 3, 1996, Pages 339-342

  Matsui, Yoshito ^a,c   Kimura, Tomoatsu ^a   Tsumaki, Noriyuki ^a   Yasui, Natsuo ^b   Ochi, Takahiro ^b  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b OSAKA ROSAI HOSPITAL   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

heteroduplex analysis; Japanese population; mutation; Schmid metaphyseal chondrodysplasia (SMCD); type X collagen gene (COL10A1)

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CODON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; METAPHYSIS; PATHOGENESIS; PRESCHOOL CHILD; RECURRENT DISEASE;

EID: 0029906544     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01913178     Document Type: Article

References (10)

1. Bonaventure J, Chaminade F, Maroteaux P (1995): Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias. Hum Genet 96: 58-64
2. 618 to Val mutation in the αl(\) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem 270: 4558-4562
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5. Mclntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA (1994): Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet 3: 303-307
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9. Wallis GA, Rash B, Sweetman WA, Thomas JT, Super M, Evans G, Grant ME, Boot-Handford RP (1994): Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the αl(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. Am J Hum Genet 54: 169-178
10. Warman ML, Abbott M, Apte SS, Hefferon T, Mclntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA (1993): A type X collagen mutation causes Schmid metaphyseal chondrodysplasia. Nature Genet 5: 79-82