Leukocyte cDNA analysis of NSD1 derived from confirmed sotos syndrome patients

Annals of Human Genetics

Volumn 71, Issue 6, 2007, Pages 713-718

  Duno, Morten ^a   Skovby, F ^a   Schwartz, M ^a  

^a Rigshospitalet   (Denmark)

Author keywords

Alternative splicing; And mutation detection; NSD1; Sotos syndrome

Indexed keywords

CELL DNA; COMPLEMENTARY DNA; EDETIC ACID; GENOMIC DNA; NUCLEAR PROTEIN; PROTEIN NSD1; RNA; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LEUKOCYTE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SEQUENCE ANALYSIS; SOTOS SYNDROME;

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; BASE SEQUENCE; CODON, NONSENSE; CRANIOFACIAL ABNORMALITIES; DNA, COMPLEMENTARY; EXONS; FRAMESHIFT MUTATION; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEUKOCYTES; LOSS OF HETEROZYGOSITY; MENTAL RETARDATION; MUTATION; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SYNDROME;

EID: 34948890501     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2007.00376.x     Document Type: Article

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