Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

Human mutation

Volumn 22, Issue 1, 2003, Pages 103-

  Urreizti, Roser ^a   Balcells, Susana ^a   Rodés, Marga ^a   Vilarinho, Laura ^a   Baldellou, Antonio ^a   Couce, María Luz ^a   Muñoz, Carmen ^a   Campistol, Jaume ^a   Pintó, Xavier ^a   Vilaseca, María Antonia ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; GLYCINE; ISOLEUCINE; METHIONINE; SERINE; THREONINE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL; ARTICLE; CHILD; CLINICAL TRIAL; ENZYMOLOGY; FEMALE; GENETICS; GENOTYPE; HOMOCYSTINURIA; HUMAN; INFANT; MALE; MIDDLE AGED; MOLECULAR GENETICS; MULTICENTER STUDY; PHENOTYPE; PORTUGAL; PRESCHOOL CHILD; PREVALENCE; SPAIN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; FEMALE; GENOTYPE; GLYCINE; HOMOCYSTINURIA; HUMANS; INFANT; ISOLEUCINE; MALE; METHIONINE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PHENOTYPE; PORTUGAL; PREVALENCE; SERINE; SPAIN; THREONINE;

EID: 17144433252     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9153     Document Type: Article

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