A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia

American Journal of Medical Genetics

Volumn 130 A, Issue 2, 2004, Pages 146-153

  Leung, Michael Yiu Kwong ^a   Al Huslim, Osama ^b   Wu, Shao Hing ^a   Aziz, Andrew ^a   Inam, Ohail ^b   Awadh, Mohammed ^b   Rennert, Owen M ^a   Chan, Wai Yee ^a,c  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b Riyadh Armed Forces Hospital ^*  (Saudi Arabia)

^c GEORGETOWN UNIVERSITY   (United States)

Author keywords

Inactivating mutation; Leydig cell hypoplasia; Luteinizing hormone receptor; Male pseudohermaphroditism

Indexed keywords

CYCLIC AMP; GREEN FLUORESCENT PROTEIN; LEUCINE; LUTEINIZING HORMONE RECEPTOR; NUCLEIC ACID BASE; PROLINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EMBRYO; ESTROGEN THERAPY; EXON; FEMALE; GENE INACTIVATION; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPLASIA; KARYOTYPE 46,XY; LEYDIG CELL; LEYDIG CELL HYPOPLASIA; LIGAND BINDING; MALE PSEUDOHERMAPHRODITISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; TESTIS;

ADOLESCENT; BASE SEQUENCE; CELL LINE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENITALIA, FEMALE; GREEN FLUORESCENT PROTEINS; HOMOZYGOTE; HUMANS; KARYOTYPING; LEYDIG CELLS; MALE; MEMBRANE PROTEINS; MICROSCOPY, FLUORESCENCE; MUTATION, MISSENSE; RADIOLIGAND ASSAY; RECEPTORS, LH; RECOMBINANT FUSION PROTEINS; TESTIS;

EID: 4644313196     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20681     Document Type: Article

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