Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

American Journal of Human Genetics

Volumn 83, Issue 4, 2008, Pages 511-519

  Kim, Hyung Goo ^a   Kurth, Ingo ^b   Lan, Fei ^c   Meliciani, Irene ^d   Wenzel, Wolfgang ^e   Eom, Soo Hyun ^f   Kang, Gil Bu ^f   Rosenberger, Georg ^b   Tekin, Mustafa ^g   Ozata, Metin ^h   Bick, David P ⁱ   Sherins, Richard J ^j   Walker, Steven L ^k   Shi, Yang ^c   Gusella, James F ^a   Layman, Lawrence C ^k  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c HARVARD MEDICAL SCHOOL   (United States)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e KARLSRUHE INSTITUTE OF TECHNOLOGY   (Germany)

^f Gwangju Institute of Science and Technology (GIST)   (South Korea)

^g ANKARA UNIVERSITY   (Turkey)

^h GATA HAYDARPASA TRAINING HOSPITAL   (Turkey)

ⁱ MEDICAL COLLEGE OF WISCONSIN   (United States)

^j Columbia Fertility Associates   (United States)

^k MEDICAL COLLEGE OF GEORGIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANOSMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHD7 GENE; CHROMATIN ASSEMBLY AND DISASSEMBLY; DEVELOPMENTAL DISORDER; FGFR1 GENE; GENE; GENE MUTATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IDIOPATHIC DISEASE; IN SITU HYBRIDIZATION; KAL1 GENE; KALLMANN SYNDROME; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMELLING DISORDER; SYNDROME CHARGE; TRANSCRIPTION REGULATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMATIN; DNA HELICASES; DNA-BINDING PROTEINS; EXONS; FEMALE; HUMANS; HYPOGONADISM; KALLMANN SYNDROME; MALE; MOLECULAR CONFORMATION; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 53249149000     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.09.005     Document Type: Article

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