Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 905-914

  McLarren, Keith W ^a,b,c   Severson, Tesa M ^d   Du Souich, Christle ^a,b,c   Stockton, David W ^e   Kratz, Lisa E ^f   Cunningham, David ^g   Hendson, Glenda ^d   Morin, Ryan D ^d   Wu, Diane ^d   Paul, Jessica E ^d   An, Jianghong ^d   Nelson, Tanya N ^d   Chou, Athena ^a,b   Debarber, Andrea E ^h   Merkens, Louise S ⁱ   Michaud, Jacques L ^j   Waters, Paula J ^d   Yin, Jingyi ^a   McGillivray, Barbara ^a,b,c   Demos, Michelle ^d   Rouleau, Guy A ^j   Grzeschik, Karl Heinz ^k   Smith, Raffaella ^l   Tarpey, Patrick S ^l   Shears, Debbie ^m   Schwartz, Charles E ⁿ   Gecz, Jozef ^o   Stratton, Michael R ^l   Arbour, Laura ^a   Hurlburt, Jane ^a   Van Allen, Margot I ^a,b   Herman, Gail E ^g   Zhao, Yongjun ^d   Moore, Richard ^d   Kelley, Richard I ^f   Jones, Steven J M ^d,p   Steiner, Robert D ⁱ   Raymond, F Lucy ^q   Marra, Marco A ^d   Boerkoel, Cornelius F ^a,b,c   more..

^a Provincial Medical Genetics Program   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c Rare Disease Foundation   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f JOHNS HOPKINS UNIVERSITY   (United States)

^g OHIO STATE UNIVERSITY   (United States)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^j CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^k PHILIPPS UNIVERSITY MARBURG   (Germany)

^l WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^m CHURCHILL HOSPITAL   (United Kingdom)

ⁿ GREENWOOD GENETIC CENTER   (United States)

^o UNIVERSITY OF ADELAIDE   (Australia)

^p SIMON FRASER UNIVERSITY   (Canada)

^q UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; NICOTINE ADENINE DINUCLEOTIDE PHOSPHATE DEPENDENT STEROID DEHYDROGENASE LIKE PROTEIN; STEROID REDUCTASE; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; BRAIN MALFORMATION; CEREBROSPINAL FLUID; CHILD; CHOLESTEROL BLOOD LEVEL; CK SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENE SEGREGATION; GENETIC LINKAGE; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STABILITY; SCHOOL CHILD; X LINKED MENTAL RETARDATION;

3-HYDROXYSTEROID DEHYDROGENASES; ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; ANIMALS; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; TEMPERATURE; YOUNG ADULT;

EID: 78649781492     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.11.004     Document Type: Article

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