No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome

American Journal of Medical Genetics

Volumn 138 A, Issue 1, 2005, Pages 32-34

  Nakane, Takaya ^a   Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Bardet Biedl syndrome; McKusick Kaufman syndrome; Modifier; Penetrance

Indexed keywords

DNA;

ALLELISM; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; BBS1 GENE; BBS2 GENE; BBS3 GENE; BBS4 GENE; BBS5 GENE; BBS6 GENE; BBS7 GENE; BBS8 GENE; GENE; GENE LOCUS; GENE SEQUENCE; GENETIC INCOMPATIBILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; MCKUSICK KAUFMAN SYNDROME; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; TRIALLELIC INHERITANCE;

ABNORMALITIES, MULTIPLE; BARDET-BIEDL SYNDROME; ETHNIC GROUPS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HEART DEFECTS, CONGENITAL; HUMANS; INHERITANCE PATTERNS; MALE; MUTATION; PEDIGREE; PENETRANCE; PHENOTYPE; POLYDACTYLY; PROTEINS; SYNDROME;

EID: 24344461255     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30593     Document Type: Article

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