Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

European Journal of Human Genetics

Volumn 24, Issue 4, 2016, Pages 529-534

  Raza, M Hashim ^a   Domingues, Carlos E F ^a   Webster, Ronald ^b   Sainz, Eduardo ^a   Paris, Emily ^a,f   Rahn, Rachel ^a   Gutierrez, Joanne ^a   Chow, Ho Ming ^a   Mundorff, Jennifer ^b   Kang, Chang Soo ^a,g   Riaz, Naveeda ^c   Basra, Muhammad A R ^d,h   Khan, Shaheen ^d   Riazuddin, Sheikh ^d   Moretti Ferreira, Danilo ^e   Braun, Allen ^a   Drayna, Dennis ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b Hollins Commun Research Institute   (United States)

^c INTERNATIONAL ISLAMIC UNIVERSITY   (Pakistan)

^d UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^e SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^f Stanford University   (United States)

^g Sungshin Women's University   (South Korea)

^h UNIVERSITY OF THE PUNJAB   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GNPTAB GENE; GNPTG GENE; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; NAGPA GENE; PRIORITY JOURNAL; STUTTERING; GENETICS; HOMOZYGOTE; MUCOLIPIDOSIS;

GNPTAB PROTEIN, HUMAN; GNPTG PROTEIN, HUMAN; N-ACETYLGLUCOSAMINE-1-PHOSPHODIESTER ALPHA-N-ACETYLGLUCOSAMINIDASE; PHOSPHODIESTERASE; PHOSPHOTRANSFERASE;

GENE FREQUENCY; HOMOZYGOTE; HUMANS; MUCOLIPIDOSES; MUTATION, MISSENSE; PHOSPHORIC DIESTER HYDROLASES; STUTTERING; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 84960343682     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.154     Document Type: Article

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