GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1281-1284

  Kaya, Namik ^a   Al Owain, Mohammad ^a,b   Abudheim, Nada ^a   Al Zahrani, Jawaher ^a,c   Colak, Dilek ^a   Al Sayed, Moeen ^a   Milanlioglu, Aysel ^d   Ozand, Pinar T ^a,f   Alkuraya, Fowzan S ^a,b,e  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d YUZUNCU YIL UNIVERSITY   (Turkey)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^f Duzen Laboratories   (Turkey)

Author keywords

Carrier testing; HEXA; HEXB; Neurodegenerative

Indexed keywords

ARTICLE; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC SCREENING; GM2 GANGLIOSIDOSIS; HETEROZYGOTE DETECTION; HEXA GENE; HEXB GENE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SANDHOFF DISEASE; SAUDI ARABIA; SOCIAL STIGMA; TAY SACHS DISEASE;

BETA-HEXOSAMINIDASE ALPHA CHAIN; BETA-HEXOSAMINIDASE BETA CHAIN; DNA MUTATIONAL ANALYSIS; GANGLIOSIDOSES, GM2; GENETIC TESTING; HUMANS; MUTATION; SAUDI ARABIA;

EID: 79956211661     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33932     Document Type: Article

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