Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3β-hydroxysterol Δ14-reductase deficiency due to mutations in the lamin B receptor gene

American Journal of Human Genetics

Volumn 72, Issue 4, 2003, Pages 1013-1017

  Waterham, Hans R ^a,e   Koster, Janet ^a   Mooyer, Petra ^a   Van Noort, Gerard ^b   Kelley, Richard I ^f   Wilcox, William R ^c   Wanders, Ronald J A ^a   Hennekam, Raoul C M ^a   Oosterwijk, Jan C ^d  

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b Department of Cytogenetics   (Netherlands)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXYSTEROL DELTA 14 REDUCTASE; CHOLESTA 8,14 DIEN 3BETA OL; LAMIN B RECEPTOR; RECEPTOR; STEROID REDUCTASE; STEROL; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CHROMATIN STRUCTURE; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; FETUS; GENE MUTATION; GENETIC CODE; GENETIC TRANSFECTION; GREENBERG SKELETAL DYSPLASIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE DISORDER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN FIBROBLAST;

HYDROPS; LEPIDOPTERA;

EID: 0345535128     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/373938     Document Type: Article

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