A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

American Journal of Human Genetics

Volumn 84, Issue 2, 2008, Pages 274-278

  Ahram, Dina ^a   Sato, T Shawn ^b   Kohilan, Abdulghni ^a   Tayeh, Marwan ^c   Chen, Shan ^b   Leal, Suzanne ^d   Al Salem, Mahmoud ^e   El Shanti, Hatem ^a,b  

^a Shafallah Medical Genetics Center   (Qatar)

^b UNIVERSITY OF IOWA   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e Ibn Alhytham Hospital   (Jordan)

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTS LIKE 4 PROTEIN; MESSENGER RNA; METALLOPROTEINASE; UNCLASSIFIED DRUG; ADAMTSL4 PROTEIN, HUMAN; THROMBOSPONDIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 1P; CLINICAL ARTICLE; ECTOPIA LENTIS; FETUS; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; CONSANGUINITY; FEMALE; GENETIC MARKER; GENETICS; HOMOZYGOTE; JORDAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CONSANGUINITY; ECTOPIA LENTIS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; JORDAN; LOD SCORE; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; THROMBOSPONDINS;

EID: 62649175429     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.01.007     Document Type: Article

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