Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

American Journal of Human Genetics

Volumn 88, Issue 5, 2011, Pages 621-627

  Huebner, Antje K ^a   Gandia, Marta ^b,c   Frommolt, Peter ^d,e   Maak, Anika ^a   Wicklein, Eva M ^f   Thiele, Holger ^d   Altmüller, Janine ^d   Wagner, Florian ^g   Viñuela, Antonio ^b,c   Aguirre, Luis A ^b,c   Moreno, Felipe ^b,c   Maier, Hannes ^h   Rau, Isabella ^f   Gießelmann, Sebastian ^a   Nürnberg, Gudrun ^d,e   Gal, Andreas ^f   Nürnberg, Peter ^d,e,g   Hübner, Christian A ^a   Del Castillo, Ignacio ^b,c   Kurth, Ingo ^a,f  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g ATLAS BIOLABS GMBH   (Germany)

^h HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MUSCLE PROTEIN; SMALL MUSCLE PROTEIN, X LINKED; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME MAP; GENE FREQUENCY; GENE LOCUS; GENE OVEREXPRESSION; GENE TARGETING; GENETIC HETEROGENEITY; GENETIC LINKAGE; HAPLOTYPE; HEARING LOSS; HUMAN; IMMUNOLOCALIZATION; LOSS OF FUNCTION MUTATION; MEIOSIS; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; X CHROMOSOMAL HEARING IMPAIRMENT; X CHROMOSOME ABERRATION;

ADOLESCENT; AGE OF ONSET; ALLELES; ANIMALS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; COCHLEA; CODON, NONSENSE; EAR, INNER; FEMALE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HAIR CELLS, AUDITORY; HAPLOTYPES; HEARING LOSS; HELA CELLS; HUMANS; MALE; MICE; MICE, INBRED C57BL; MUSCLE PROTEINS; PEDIGREE;

MURINAE;

EID: 79955852297     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.04.007     Document Type: Article

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