A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome

Atherosclerosis

Volumn 203, Issue 2, 2009, Pages 466-471

  Faiyaz Ul Haque, Muhammad ^a,b,c   Zaidi, Syed H E ^d   Al Sanna, Nouriyah ^e   Alswaid, Abdulrahman ^f   Momenah, Tariq ^f   Kaya, Namik ^b   Al Dayel, Fouad ^b   Bouhoaigah, Issam ^e   Saliem, Mohammed ^e   Tsui, Lap Chee ^a,g   Teebi, Ahmad S ^a,h  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d UNIVERSITY HEALTH NETWORK   (Canada)

^e DHAHRAN HEALTH CENTER   (Saudi Arabia)

^f The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^g UNIVERSITY OF HONG KONG   (Hong Kong)

^h WEILL CORNELL MEDICAL COLLEGE   (Qatar)

Author keywords

Arterial tortuosity syndrome; Connective tissue disorder; Pulmonary hypertension; SLC2A10 mutation

Indexed keywords

ARGININE; CYSTEINE; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 10; SERINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTERIAL TORTUOSITY SYNDROME; ARTERY DILATATION; ARTERY DISEASE; ARTERY OCCLUSION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOVASCULAR SYMPTOM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONNECTIVE TISSUE; FAMILY; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; PULMONARY HYPERTENSION; SAUDI ARABIA;

ARTERIES; CONNECTIVE TISSUE DISEASES; CONSTRICTION, PATHOLOGIC; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HOMOZYGOTE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SAUDI ARABIA; SYNDROME;

EID: 62949151326     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2008.07.026     Document Type: Article

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