Mutations in FLNB cause boomerang dysplasia.

Journal of medical genetics

Volumn 42, Issue 7, 2005, Pages

  Bicknell, L S ^a   Morgan, T ^a   Bonafe L ^a   Wessels, M W ^a   Bialer, M G ^a   Willems, P J ^a   Cohn, D H ^a   Krakow, D ^a   Robertson, S P ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN BINDING PROTEIN; CONTRACTILE PROTEIN; FILAMINS;

AMINO ACID SUBSTITUTION; ANIMAL; BINDING SITE; CASE REPORT; CHONDRODYSPLASIA; FEMALE; FETUS DEATH; GENETICS; HETEROZYGOTE; HUMAN; LETTER; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREGNANCY; RADIOGRAPHY; SECOND TRIMESTER PREGNANCY; SEQUENCE HOMOLOGY;

ABNORMALITIES, MULTIPLE; ABORTED FETUS; AMINO ACID SUBSTITUTION; ANIMALS; BINDING SITES; CONSERVED SEQUENCE; CONTRACTILE PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; MICROFILAMENT PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PREGNANCY; PREGNANCY TRIMESTER, SECOND; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33646978492     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.029967     Document Type: Letter

References (0)