Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

Human Genetics

Volumn 110, Issue 6, 2002, Pages 561-567

  Slavotinek, A M ^a   Searby, C ^b   Al Gazali, L ^c   Hennekam, R C M ^d   Schrander Stumpel, C ^e   Orcana Losa, M ^f   Pardo Reoyo, S ^g   Cantani, A ^h   Kumar, D ⁱ   Capellini, Q ^j   Neri, G ^k   Zackai, E ^l   Biesecker, L G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e Stichting Klinische Genetica   (Netherlands)

^f HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^g UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^j Ospedale N Melli   (Italy)

^k FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^l CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; FAMILY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENITAL MALFORMATION; HUMAN; HYDROMETROCOLPOS; KIDNEY DISEASE; MCKUSICK KAUFMAN SYNDROME; MEDICAL LITERATURE; MOLECULAR CLONING; MUTANT; MUTATION RATE; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; OBESITY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PUBLICATION; RETINITIS PIGMENTOSA;

ABNORMALITIES, MULTIPLE; ALLELES; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENITALIA, FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MODELS, GENETIC; MOLECULAR CHAPERONES; MULTIFACTORIAL INHERITANCE; MUTATION; POLYDACTYLY; SYNDROME;

EID: 0036626671     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0733-3     Document Type: Article

References (28)

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