The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: Novel mutations, and somatic and gonadal mosaicism

Human Molecular Genetics

Volumn 9, Issue 13, 2000, Pages 1951-1955

  Has, Cristina ^a   Bruckner Tuderman, Leena ^a   Müller, Dietmar ^b   Floeth, Michaela ^a   Folkers, Elzo ^c   Donnai, Diana ^d   Traupe, Heiko ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b Hospital for Sick Infants   (Germany)

^c ZAANS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; EMOPAMIL; RESTRICTION ENDONUCLEASE; CARRIER PROTEIN; EBP PROTEIN, HUMAN; STEROID DELTA ISOMERASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CALCIFYING CHONDRODYSTROPHY; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; ENZYME ANALYSIS; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENE MUTATION; GONAD DEVELOPMENT; HUMAN; ICHTHYOSIS; MALE; MOSAICISM; NONSENSE MUTATION; PHYSICAL DEVELOPMENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; X CHROMOSOME DOMINANT DISORDER; CATARACT; ELECTROPHORESIS; GENETICS; GENOME IMPRINTING; METHODOLOGY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION;

ADOLESCENT; ADULT; AGED; CARRIER PROTEINS; CATARACT; CHILD; CHONDRODYSPLASIA PUNCTATA; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS; FEMALE; FRAMESHIFT MUTATION; GENOMIC IMPRINTING; HUMANS; MALE; MIDDLE AGED; MOSAICISM; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; STEROID ISOMERASES;

EID: 0034641372     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.13.1951     Document Type: Article

References (22)

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