Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): Defining novel phenotypes through hierarchical cluster analysis

Human Mutation

Volumn 28, Issue 8, 2007, Pages 808-815

  Guenther, Ulf Peter ^a,b   Varon, Raymonda ^b   Schlicke, Maria ^b   Dutrannoy, Véronique ^b   Volk, Alexander ^b   Hübner, Christoph ^b   Von Au, Katja ^b   Schuelke, Markus ^b  

^a FREIE UNIVERSITÄT BERLIN   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Hierarchical cluster analysis; IGHMBP2; SMARD1; Splice site

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DIAPHRAGM EVENTRATION; FRAMESHIFT MUTATION; GENE CLUSTER; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; IGHMBP2 GENE; IMMUNOGLOBULIN GENE; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; QUESTIONNAIRE; RESPIRATORY DISTRESS; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS;

CHI-SQUARE DISTRIBUTION; CLUSTER ANALYSIS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; HUMANS; INFANT; INFANT, NEWBORN; MUSCULAR ATROPHY, SPINAL; MUTATION; PHENOTYPE; RESPIRATION DISORDERS; TRANSCRIPTION FACTORS;

EID: 34548022629     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20525     Document Type: Article

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