PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Human mutation

Volumn 27, Issue 10, 2006, Pages 1062-

  Benito Sanz, Sara ^a   del Blanco, Darya Gorbenko ^a   Aza Carmona, Miriam ^a   Magano, Luis F ^a   Lapunzina, Pablo ^a   Argente, Jesús ^a   Campos Barros, Angel ^a   Heath, Karen E ^a  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CHILD; CHONDRODYSPLASIA; CHROMOSOME DELETION; COHORT ANALYSIS; ETHNOLOGY; GENE DELETION; GENETIC HETEROGENEITY; GENETICS; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; METHODOLOGY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME DELETION; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENETIC HETEROGENEITY; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM, SINGLE NUCLEOTIDE; SPAIN; TRANSCRIPTION FACTORS;

EID: 33749139726     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9456     Document Type: Article

References (0)