Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD

European Journal of Human Genetics

Volumn 17, Issue 3, 2009, Pages 344-351

  Stańczak, Paweł ^a   Witecka, Joanna ^b   Szydło, Anna ^b   Gutmajster, Ewa ^b   Lisik, Małgorzata ^b   Auguściak Duma, Aleksandra ^b   Tarnowski, Maciej ^b   Czekaj, Tomasz ^b   Czekaj, Hanna ^b   Sieroń, Aleksander L ^b  

^a Regional District Hospital   (Poland)

^b MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA FRAGMENT; LEUCINE; MAMMALIAN TOLLOID LIKE 1 PROTEIN; METALLOPROTEINASE; METHIONINE; UNCLASSIFIED DRUG; VALINE;

5' UNTRANSLATED REGION; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME SPECIFICITY; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART ANEURYSM; HEART ATRIUM SEPTUM DEFECT; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT; TOLLOID-LIKE METALLOPROTEINASES;

MAMMALIA; MUS MUSCULUS;

EID: 60749126063     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.175     Document Type: Article

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