A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

Human mutation

Volumn 27, Issue 7, 2006, Pages 719-

  El Said, Mahmoud F ^a   Badii, Ramin ^a   Bessisso, M S ^a   Shahbek, Noora ^a   El Ali, Mariam G ^a   El Marikhie, Mariam ^a   El Zyoid, M ^a   Salem, M S ^a   Bener, Abdulbari ^a   Hoffmann, Georg F ^a   Zschocke, Johannes ^a  

^a HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENETICS; HOMOCYSTINURIA; HOMOZYGOTE; HUMAN; INFANT; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; QATAR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CYSTATHIONINE BETA-SYNTHASE; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; QATAR;

EID: 33746708293     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9436     Document Type: Article

References (0)