Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia

Clinical Genetics

Volumn 75, Issue 5, 2009, Pages 429-439

  Slavotinek, A M ^a   Moshrefi, A ^a   Lopez Jiminez, N ^a   Chao, R ^a   Mendell, A ^b   Shaw, G M ^c   Pennacchio, L A ^d,e   Bates, M D ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

^d DOE JOINT GENOME INSTITUTE   (United States)

^e LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

Author keywords

smooth muscle actin promoter; Animal models; Congenital diaphragmatic hernia; HLX, HLX1; Mutation detection; SM22

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; COMPLEMENTARY RNA; GAMMA SMOOTH MUSCLE ACTIN; HOMEODOMAIN PROTEIN; PROTEIN HLX; SMOOTH MUSCLE ACTIN; TRANSGELIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL TISSUE; ARTICLE; CHROMOSOME 1Q; CHROMOSOME DELETION 4; CHROMOSOME DELETION 5; CHROMOSOME VARIANT; CONGENITAL DIAPHRAGM HERNIA; CONTROLLED STUDY; DNA SEQUENCE; EMBRYO; EXON; FEMALE; GENE CONTROL; GENE EXPRESSION; GENE IDENTIFICATION; HUMAN; IN SITU HYBRIDIZATION; INTRON; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 1; EMBRYO, MAMMALIAN; GENETIC VARIATION; HERNIA, DIAPHRAGMATIC; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION; KARYOTYPING; MICE; MOLECULAR SEQUENCE DATA; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

ANIMALIA; MURINAE;

EID: 65449136711     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01182.x     Document Type: Article

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