Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome

Clinical Chemistry

Volumn 52, Issue 1, 2006, Pages 46-52

  Garcia Barceló, Mercè ^a   So, Man Ting ^a   Lau, Danny Ko Chun ^a   Leon, Thomas Yuk Yu ^a   Yuan, Zheng Wei ^a,b   Cai, Wei Song ^a,b   Lui, Vincent Chi Hang ^a   Fu, Ming ^a,c   Herbrick, Jo Anne ^d   Gutter, Emily ^e   Proud, Virginia ^e   Li, Long ^c   Pierre Louis, Jacqueline ^f   Aleck, Kirk ^g   Van Heurn, Ernest ^h   Belloni, Elena ⁱ   Scherer, Stephen W ^d   Tam, Paul Kwong Hang ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINA MEDICAL UNIVERSITY   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^f UNIVERSITY OF TORONTO   (Canada)

^g ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

^h MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALANINE DERIVATIVE; ARGININE; CYSTEINE; ISOLEUCINE; METHIONINE; SERINE; TRYPTOPHAN;

ALLELISM; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; CURRARINO SYNDROME; ETHNIC DIFFERENCE; FAMILIAL DISEASE; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HLXB9 GENE; HOMEOBOX; HUMAN; HUMAN TISSUE; JAPAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; RACE DIFFERENCE; RISK ASSESSMENT; SACRUM AGENESIS; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; ANAL CANAL; FEMALE; GENETICS, POPULATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; PEPTIDES; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; SACRUM; SYNDROME; TRANSCRIPTION FACTORS;

EID: 29744438814     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.056192     Document Type: Article

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