Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Nature Genetics

Volumn 9, Issue 3, 1995, Pages 321-328

  Tavormina, Patricia L ^a   Shiang, Rita ^a   Thompson, Leslie M ^a   Zhu, Ya Zhen ^a   Wilkin, Douglas J ^b   Lachman, Ralph S ^b   Wilcox, William R ^b   Rimoin, David L ^b   Cohn, Daniel H ^b   Wasmuth, John J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; SKULL MALFORMATION;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA PRIMERS; FEMALE; FEMUR; HUMAN; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKULL; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; THANATOPHORIC DYSPLASIA;

EID: 0028872752     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0395-321     Document Type: Article

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