Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: Novel loss-of-function mutation and non-pathogenicity of p.Y1719C

Molecular Vision

Volumn 13, Issue , 2007, Pages 1862-1865

  Boulouiz, Redouane ^a,b   Li, Yun ^c   Abidi, Omar ^a   Bolz, Hanno ^c   Chafik, Abdelaziz ^b   Kubisch, Christian ^c   Rouba, Hassan ^a   Wollnik, Bernd ^c   Barakat, Abdelhamid ^a  

^a Institut Pasteur du Maroc   (Morocco)

^b FACULTÉ DES SCIENCES   (Morocco)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; GUANINE; MYOSIN; MYOSIN VIIA; TYROSINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONSANGUINITY; DIAGNOSTIC VALUE; EXON; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOROCCO; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOGENICITY; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; USHER SYNDROME;

ADULT; CONSANGUINITY; DYNEIN ATPASE; FEMALE; GENE FREQUENCY; HOMOZYGOTE; HUMANS; MALE; MOROCCO; MUTATION; MUTATION, MISSENSE; MYOSINS; PEDIGREE; USHER SYNDROMES;

EID: 34948849784     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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