EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome

Congenital Anomalies

Volumn 47, Issue 1, 2007, Pages 49-52

  Torii, Chiharu ^a   Izumi, Kosuke ^a   Nakajima, Hideo ^a   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Craniosynostosis; Eph; Ephrin; Mutation analysis

Indexed keywords

AMINO ACID; EPHRIN; EPHRIN B1; EPHRIN RECEPTOR; RECEPTOR PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BRACHYCEPHALY; CASE REPORT; CONVERGENT STRABISMUS; CRANIOFACIAL SYNOSTOSIS; CRANIOFRONTONASAL SYNDROME; DIMERIZATION; FACE ASYMMETRY; FACIES; FEMALE; FRONTAL BOSSING; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERTELORISM; JAPANESE; MISSENSE MUTATION; NAIL DISEASE; NUCLEOTIDE SEQUENCE; PIGEON THORAX; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STRUCTURE; THUMB; TOE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CRANIOSYNOSTOSES; DIMERIZATION; EPHRIN-B1; FEMALE; HETEROZYGOTE; HUMANS; HYPERTELORISM; INFANT; LIGANDS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RECEPTORS, EPH FAMILY; SYNDROME;

RODENTIA;

EID: 33846820588     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2006.00140.x     Document Type: Article

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