Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Clinical Genetics

Volumn 82, Issue 2, 2012, Pages 197-200

  Aminoff, A ^a   Gunnar, E ^a   Barbaro, M ^a   Mannila, M N ^a   Duponchel, C ^b   Tosi, M ^b   Robinson, K L ^a   Hernell, O ^c   Ehrenborg, E ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b INSERM   (France)

^c UMEÅ UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; RETINOL; VERY LOW DENSITY LIPOPROTEIN; VITAMIN K GROUP;

ABETALIPOPROTEINEMIA; ADOLESCENT; AFIBRINOGENEMIA; ALPHA HELIX; CASE REPORT; CHROMOSOME 4; CODON; CONTROLLED STUDY; DISOMY; FAILURE TO THRIVE; HETEROZYGOSITY LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTESTINE CELL; INTRON; LETTER; LOW FAT DIET; MAJOR DEPRESSION; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN DOMAIN; VITAMIN SUPPLEMENTATION;

ABETALIPOPROTEINEMIA; ADOLESCENT; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 4; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; UNIPARENTAL DISOMY;

EID: 84863777863     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01828.x     Document Type: Letter

References (8)

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