Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1272-1276

  Narumi, Yoko ^a,b   Nishina, Sachiko ^c   Tokimitsu, Motoharu ^a   Aoki, Yoko ^d   Kosaki, Rika ^c   Wakui, Keiko ^a   Azuma, Noriyuki ^c   Murata, Toshinori ^a   Takada, Fumio ^b   Fukushima, Yoshimitsu ^a   Kosho, Tomoki ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KITASATO UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Congenital cataract; Iris coloboma; MAF; Microcornea; Whole exome sequencing

Indexed keywords

GLUTAMINE; PROLINE; TRANSCRIPTION FACTOR MAF;

ARTICLE; ASTIGMATISM; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CATARACT; CATARACT EXTRACTION; CHILD; CORNEA DISEASE; DNA BINDING MOTIF; EXOME; FAMILIAL DISEASE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; IRIS COLOBOMA; JAPANESE; LANGUAGE DELAY; MAF GENE; MALE; MICROCORNEA; MISSENSE MUTATION; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; VISUAL ACUITY;

AVES;

EID: 84898900863     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36433     Document Type: Article

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