A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 144-147

  Superti Furga, Andrea ^a   Rossi, Antonio ^b   Steinmann, Beat ^a   Gitzelmann, Richard ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

achondrogenesis; atelosteogenesis; chondrodysplasia; diastrophic dysplasia; sulfate transporter; sulfated proteoglycans

Indexed keywords

BONE DYSPLASIA; CHONDRODYSPLASIA; DISEASE SEVERITY; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW;

ANIMALS; ANION TRANSPORT PROTEINS; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENOTYPE; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0029917537     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N     Document Type: Review

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