Analysis of the CTNS gene in 32 cystinosis patients from Spain

Clinical Genetics

Volumn 76, Issue 5, 2009, Pages 486-489

  Macias Vidal J ^a   Rodes M ^a   Hernandez Perez J M ^b   Vilaseca, M A ^c   Coll, M J ^a  

^a HOSPITAL CLÍNIC   (Spain)

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

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTINE; CYSTINOSIN; GENOMIC DNA; LYSOSOME ASSOCIATED MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINOSIS; DISEASE SEVERITY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; LETTER; MALE; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SYMPTOM;

ADOLESCENT; ADULT; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHILD; CHILD, PRESCHOOL; CYSTINOSIS; HUMANS; INFANT, NEWBORN; SPAIN;

EID: 70449458002     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01222.x     Document Type: Letter

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