Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Human Genetics

Volumn 98, Issue 6, 1996, Pages 657-661

  Rossi, Antonio ^a,e   Van Der Harten, Hans J ^b   Beemer, Frits A ^c   Kleijer, Wim J ^d   Gitzelmann, Richard ^a   Steinmann, Beat ^a   Superti Furga, Andrea ^a,f  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF PAVIA   (Italy)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; MESSENGER RNA; SULFATE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHONDRODYSPLASIA; FETUS; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ANION TRANSPORT PROTEINS; BIOLOGICAL TRANSPORT; CARRIER PROTEINS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; FIBROBLASTS; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SULFATES;

EID: 0029973899     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050279     Document Type: Article

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