A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family

Pediatrics International

Volumn 52, Issue 2, 2010, Pages 240-246

  Umm E Kalsoom, ^a   Wasif, Naveed ^a   Tariq, Muhammad ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

EVC gene; EVC syndrome; Missense mutation

Indexed keywords

ADENINE; ELLIS VAN CREVELD PROTEIN; GENE PRODUCT; GUANINE; UNCLASSIFIED DRUG; EVC PROTEIN, HUMAN; PROTEIN;

ARTICLE; CHROMOSOME 4P; DNA SEQUENCE; ELLIS VAN CREVELD SYNDROME; GENE IDENTIFICATION; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE; PRIORITY JOURNAL; FEMALE; GENETICS; MALE;

ELLIS-VAN CREVELD SYNDROME; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; PROTEINS;

EID: 77950190619     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2009.02953.x     Document Type: Article

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