A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism

Human Mutation

Volumn 30, Issue 9, 2009, Pages

  Qiao, Jie ^a   Han, Bing ^a   Liu, Bing Li ^a   Chen, Xia ^b   Ru, Ying ^a   Cheng, Kai Xiang ^a   Chen, Fu Guo ^a   Zhao, Shuang Xia ^a   Liang, Jun ^c   Lu, Ying Li ^a   Tang, Jin Feng ^a   Wu, Yi Xin ^a   Wu, Wan Ling ^a   Chen, Jia Lun ^a   Chen, Ming Dao ^a   Song, Huai Dong ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b NANJING MEDICAL UNIVERSITY   (China)

^c XUZHOU CENTRAL HOSPITAL   (China)

Author keywords

Leydig cell hypoplasia; LHCGR; Male pseudohermaphroditism

Indexed keywords

CHORIONIC GONADOTROPIN; HYDROGEN; ISOLEUCINE; LUTEINIZING HORMONE RECEPTOR; MESSENGER RNA; RNA; THREONINE;

ANALYSIS; ARTICLE; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROGEN BOND; IN VITRO STUDY; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LHCGR GENE; MALE PSEUDOHERMAPHRODITISM; MISSENSE MUTATION; MODEL; MUTANT; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; RNA SPLICING; SIBLING; SIGNAL TRANSDUCTION;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; FAMILY; FEMALE; HETEROZYGOTE; HUMANS; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN CONFORMATION; PSEUDOHERMAPHRODITISM; RECEPTORS, LH; RNA SPLICE SITES; RNA, MESSENGER;

EID: 69549086428     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21072     Document Type: Article

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