Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis [5]

Journal of Medical Genetics

Volumn 39, Issue 10, 2002, Pages 764-766

  Schindler, S ^a   Friedrich, M ^a   Wagener, H ^a   Lorenz, B ^a   Preising, M N ^a  

^a UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

BLOOD SAMPLING; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; LETTER; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; CRANIAL SUTURES; CRANIOSYNOSTOSES; EXONS; FEMALE; FIBROBLAST GROWTH FACTORS; HETEROZYGOTE DETECTION; HUMANS; LEUCINE; MUTATION; PROLINE; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0036794918     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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