Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

American Journal of Human Genetics

Volumn 77, Issue 1, 2005, Pages 16-26

  Zeng, Wen Qi ^a   Al Yamani, Eiman ^a,b   Acierno Jr , James S ^a,c   Slaugenhaupt, Susan ^a   Gillis, Tammy ^a   MacDonald, Marcy E ^a   Ozand, Pinar T ^b   Gusella, James F ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^c ILLUMINA INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; CARRIER PROTEIN; FOLIC ACID; THIAMINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOTIN RESPONSIVE BASAL GANGLIA DISEASE; BRAIN DISEASE; BRAIN NECROSIS; CAUDATE NUCLEUS; CHROMOSOME 2Q; CHROMOSOME MAP; CLINICAL ARTICLE; CONFUSION; DEATH; DISEASE SEVERITY; DRUG MEGADOSE; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EXTRAPYRAMIDAL SYNDROME; FAMILIAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MARKER GENE; MISSENSE MUTATION; MUSCLE RIGIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PUTAMEN; QUADRIPLEGIA; SLC19A1 GENE; SLC19A2 GENE; SLC19A3 GENE; SYMPTOMATOLOGY;

EID: 20544449737     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/431216     Document Type: Article

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