Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

Clinical Genetics

Volumn 74, Issue 2, 2008, Pages 189-193

  Faiyaz ul Haque, Muhammad ^a,b   Zaidi, S H E ^c,d   Wahab, A A ^e   Eltohami, A ^e   Al Mureikhi, M S ^e   Al Thani, G ^e   Peltekova, V D ^a   Tsui, L C ^a,f   Teebi, A S ^a,e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

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

^c UNIVERSITY HEALTH NETWORK   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e HAMAD MEDICAL CORPORATION   (Qatar)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 10;

AMINO ACID SUBSTITUTION; ARTERIAL TORTUOSITY SYNDROME; ARTERY DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLIANCE (PHYSICAL); CONNECTIVE TISSUE DISEASE; CONSANGUINEOUS MARRIAGE; FACIES; FAMILY STUDY; FEMALE; GENE MUTATION; HERNIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JOINT HYPERMOBILITY; JOINT LAXITY; LETTER; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; QATAR; SKIN BIOPSY; SKIN DISEASE;

ARTERIES; CONNECTIVE TISSUE DISEASES; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; HUMANS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SAUDI ARABIA;

EID: 47149105278     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01049.x     Document Type: Letter

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