Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome [5]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 2, 2007, Pages 216-218

  Drera, Bruno ^a   Guala, Andrea ^b   Zoppi, Nicoletta ^a   Gardella, Rita ^a   Franceschini, Piergiorgio ^c   Barlati, Sergio ^a   Colombi, Marina ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b Ospedale SS Pietro e Paolo   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DNA; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 10; GLUTAMIC ACID; GUANINE; LYSINE; MUTANT PROTEIN; THYMINE; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTERIAL TORTUOSITY SYNDROME; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KNOCKOUT GENE; LETTER; MALE; MISSENSE MUTATION; MOUSE; MULTIGENE FAMILY; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; SLC2A10 GENE;

ADOLESCENT; AMINO ACID SEQUENCE; ARTERIES; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; MALE; MUTATION; NEOVASCULARIZATION, PATHOLOGIC; PEDIGREE; SEQUENCE ANALYSIS, DNA; SYNDROME; VASCULAR DISEASES;

EID: 33845997809     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31514     Document Type: Letter

References (13)

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