Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 554-559

  Espinos C ^a   Garcia Cazorla A ^b   Martinez Rubio D ^c   Martinez Martinez E ^c   Vilaseca, M A ^b   Perez Duenas B ^b   Kozich V ^d   Palau, F ^c   Artuch, R ^b  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^d Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Ancient origin; CTH gene; Cystathionine lyase; Cystathioninuria; Pyridoxine therapy

Indexed keywords

CYSTATHIONINE GAMMA LYASE; PYRIDOXINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROL GROUP; CONTROLLED STUDY; CYSTATHIONINURIA; CZECH REPUBLIC; ENZYME ASSAY; EUROPE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOTE; HUMAN; NEOLITHIC; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ALLELES; CHILD; CHILD, PRESCHOOL; CYSTATHIONINE GAMMA-LYASE; CZECH REPUBLIC; EUROPE; FEMALE; GENETIC VARIATION; HUMANS; HYPERHOMOCYSTEINEMIA;

EID: 78149254370     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01431.x     Document Type: Article

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