Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Furtado, Larissa V ^a   Wooderchak Donahue, Whitney ^b   Rope, Alan F ^a   Yetman, Angela T ^c   Lewis, Tracey ^b   Plant, Parker ^b   Bayrak Toydemir, Pinar ^a,b  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c PRIMARY CHILDREN'S MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CTXN2 PROTEIN; DEOXYURIDINE TRIPHOSPHATE PYROPHOSPHATASE; FIBRILLIN 1; MEMBRANE PROTEIN; MYEF2 PROTEIN; SLC12A1 PROTEIN; SLC24A5 PROTEIN; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; UNCLASSIFIED DRUG; ACTIN BINDING PROTEIN; FIBRILLIN; PROTEIN SERINE THREONINE KINASE; TGF BETA TYPE I RECEPTOR; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TRANSFORMING GROWTH FACTOR BETA TYPE II RECEPTOR; TRANSFORMING GROWTH FACTOR-BETA TYPE II RECEPTOR;

ACETABULUM PROTRUSION; ADOLESCENT; ADULT; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; BONE DISEASE; CHILD; CHROMOSOME 15; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DOLICOCEPHALIA; DURAL ECTASIA; ECTOPIA LENTIS; EXON; FAMILY; FEMALE; FIRST DEGREE RELATIVE; FLATFOOT; FOOT MALFORMATION; FUNNEL CHEST; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE SEQUENCE; GENOMICS; HUMAN; HYPERTELORISM; KYPHOSIS; MALE; MARFAN SYNDROME; MICRORETROGNATHIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PALATE MALFORMATION; PIGEON THORAX; PRESCHOOL CHILD; RELATIVE; SCHOOL CHILD; SCOLIOSIS; THORACOLUMBAR KYPHOSIS; GENETIC ASSOCIATION; GENETICS; MISSENSE MUTATION; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 80053171792     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-119     Document Type: Article

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