Revisiting MSUD in Portuguese Gypsies: Evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene

Annals of Human Genetics

Volumn 73, Issue 3, 2009, Pages 298-303

  Quental, Sofia ^a   Gusmão, Alfredo ^a   Rodríguez Pombo, Pilar ^b   Ugarte, Magdalena ^b   Vilarinho, Laura ^c   Amorim, António ^a   Prata, Maria J ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

Author keywords

BCKDHA; Founder mutation; Haplotype; Maple syrup urine disease

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE);

ARTICLE; CONTROLLED STUDY; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GIPSY; HAPLOTYPE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PORTUGAL; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); CHROMOSOME MAPPING; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GYPSIES; HETEROZYGOTE; HUMANS; MALE; MAPLE SYRUP URINE DISEASE; MICROSATELLITE REPEATS; MUTATION; PORTUGAL;

ACER;

EID: 65449150929     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2009.00518.x     Document Type: Article

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